Canonical Allele Identifier: PA1139743386
Gene: FAH HGNC NCBI

Linked Data

ClinVar Variation Id: 884320
ClinVar RCV Id: RCV001115333

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361309.1:p.Gln329His
CA393621702
NM_001374380.1:c.987G>C
CA393621703
NM_001374380.1:c.987G>T