Allele Registry

Canonical Allele Identifier: PA2827510212

Gene: MECR HGNC NCBI

ClinVar RCV:

RCV000415570

RCV000519749

RCV000755156

RCV003314592

ClinVar Variation:

374878

HGVS (amino-acid)	Matching Registered Transcripts
NP_001336646.1:p.Gly182Glu	CA725727 NM_001349717.2:c.545G>A