Allele Registry

Canonical Allele Identifier: PA891865345

Gene: MECR HGNC NCBI

ClinVar RCV:

RCV000415607

RCV000755160

RCV001865308

RCV003448300

ClinVar Variation:

374882

HGVS (amino-acid)	Matching Registered Transcripts
NP_057095.4:p.Arg258Trp	CA725666 NM_016011.5:c.772C>T