Allele Registry

Canonical Allele Identifier: PA916030208

Gene: MECR HGNC NCBI

ClinVar RCV:

RCV000415576

RCV000755159

ClinVar Variation:

374881

HGVS (amino-acid)	Matching Registered Transcripts
NP_001336644.1:p.Tyr320Cys	CA725617 NM_001349715.2:c.959A>G