Allele Registry

Canonical Allele Identifier: PA2827510110

Gene: MECR HGNC NCBI

ClinVar RCV:

RCV000415576

RCV000755159

ClinVar Variation:

374881

HGVS (amino-acid)	Matching Registered Transcripts
NP_001336645.1:p.Tyr313Cys	CA725617 NM_001349716.2:c.938A>G