Allele Registry

Canonical Allele Identifier: PA891865346

Gene: MECR HGNC NCBI

ClinVar RCV:

RCV000415576

RCV000755159

ClinVar Variation:

374881

HGVS (amino-acid)	Matching Registered Transcripts
NP_057095.4:p.Tyr285Cys	CA725617 NM_016011.5:c.854A>G