Allele Registry

Canonical Allele Identifier: PA2828145749

Gene: MEF2C HGNC NCBI

ClinVar RCV:

RCV000656084

ClinVar Variation:

438583

HGVS (amino-acid)	Matching Registered Transcripts
NP_001351278.1:p.Ser279Leu	CA3337223 NM_001364349.2:c.836C>T