Allele Registry

Canonical Allele Identifier: PA2827510230

Gene: MECR HGNC NCBI

ClinVar RCV:

RCV000415576

RCV000755159

ClinVar Variation:

374881

HGVS (amino-acid)	Matching Registered Transcripts
NP_001336646.1:p.Tyr235Cys	CA725617 NM_001349717.2:c.704A>G