Canonical Allele Identifier: PA1139743375
Gene: FAH HGNC NCBI

Linked Data

ClinVar Variation Id: 965511
ClinVar RCV Id: RCV001239980

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361309.1:p.Gly178Arg
CA393619911
NM_001374380.1:c.532G>A
CA393619912
NM_001374380.1:c.532G>C