Canonical Allele Identifier: PA229299
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102490
ClinVar RCV Id: RCV000088721 RCV001386151
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Ser349Ala
CA229298
NM_000277.3:c.1045T>G