Canonical Allele Identifier: PA916037762
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102483
ClinVar RCV Id: RCV000088714 RCV000490440
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Ala345Thr
CA229291
NM_001354304.2:c.1033G>A