Allele Registry

Canonical Allele Identifier: PA2828508958

Gene: FAH HGNC NCBI

ClinVar RCV:

RCV003064290

ClinVar Variation:

2137735

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361306.1:p.Pro249Thr	CA393620716 NM_001374377.1:c.745C>A