Allele Registry

Canonical Allele Identifier: PA916030204

Gene: MECR HGNC NCBI

ClinVar RCV:

RCV000415570

RCV000519749

RCV000755156

RCV003314592

ClinVar Variation:

374878

HGVS (amino-acid)	Matching Registered Transcripts
NP_001336644.1:p.Gly267Glu	CA725727 NM_001349715.2:c.800G>A