Allele Registry

Canonical Allele Identifier: PA111045

Gene: FAH HGNC NCBI

ClinVar RCV:

RCV003064290

ClinVar Variation:

2137735

HGVS (amino-acid)	Matching Registered Transcripts
NP_000128.1:p.Pro249Thr	CA393620716 NM_000137.4:c.745C>A