Allele Registry

Canonical Allele Identifier: PA2580233762

Gene: FAH HGNC NCBI

ClinVar RCV:

RCV003064290

ClinVar Variation:

2137735

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361309.1:p.Pro249Thr	CA393620716 NM_001374380.1:c.745C>A