Allele Registry

Canonical Allele Identifier: PA2828141244

Gene: MEF2C HGNC NCBI

ClinVar RCV:

RCV000656084

ClinVar Variation:

438583

HGVS (amino-acid)	Matching Registered Transcripts
NP_001351262.1:p.Ser279Leu	CA3337223 NM_001364333.2:c.836C>T