Allele Registry

Canonical Allele Identifier: PA916030205

Gene: MECR HGNC NCBI

ClinVar RCV:

RCV000415607

RCV000755160

RCV001865308

RCV003448300

ClinVar Variation:

374882

HGVS (amino-acid)	Matching Registered Transcripts
NP_001336644.1:p.Arg293Trp	CA725666 NM_001349715.2:c.877C>T