Allele Registry

Canonical Allele Identifier: PA2827509595

Gene: MECR HGNC NCBI

ClinVar RCV:

RCV000415576

RCV000755159

ClinVar Variation:

374881

HGVS (amino-acid)	Matching Registered Transcripts
NP_001336641.1:p.Tyr209Cys	CA725617 NM_001349712.2:c.626A>G