Report copyright - HGVS HGVS HGMD HGMD codon HGMD amino Phenotype … · CM092078 ACG-AGG Thr241Arg 722C>G T241R Noonan syndrome Sarkozy (2009) Hum Mutat 30:695 PubMed 19206169 CM092077 ACG-ATG Thr241Met
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