Allele Registry

Canonical Allele Identifier: PA2828508971

Gene: FAH HGNC NCBI

ClinVar RCV:

RCV000020129

RCV000153220

ClinVar Variation:

21058

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361306.1:p.Pro261Leu	CA233969 NM_001374377.1:c.782C>T