Canonical Allele Identifier: PA916037488
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102716
ClinVar Variation Id: 1384858
ClinVar RCV Id: RCV001897836

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Gly171Arg
CA229598
NM_001354304.2:c.511G>A
CA386297069
NM_001354304.2:c.511G>C