Allele Registry

Canonical Allele Identifier: PA2573072916

Gene: FAH HGNC NCBI

ClinVar RCV:

RCV000012643

RCV000020125

RCV000174220

RCV001701723

ClinVar Variation:

11868

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361309.1:p.Arg341Trp	CA121722 NM_001374380.1:c.1021C>T