Canonical Allele Identifier: PA916037514
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 451812
ClinVar RCV Id: RCV000522171

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Thr189Arg
CA386296823
NM_001354304.2:c.566C>G