Allele Registry

Canonical Allele Identifier: PA891865344

Gene: MECR HGNC NCBI

ClinVar RCV:

RCV000415570

RCV000519749

RCV000755156

RCV003314592

ClinVar Variation:

374878

HGVS (amino-acid)	Matching Registered Transcripts
NP_057095.4:p.Gly232Glu	CA725727 NM_016011.5:c.695G>A