Allele Registry

Canonical Allele Identifier: PA2828146113

Gene: MEF2C HGNC NCBI

ClinVar RCV:

RCV000622665

RCV003139948

ClinVar Variation:

520592

HGVS (amino-acid)	Matching Registered Transcripts
NP_001351281.1:p.Leu38Pro	CA360425096 NM_001364352.2:c.113T>C