Canonical Allele Identifier: PA2825138131
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 987911
ClinVar RCV Id: RCV001269317
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Tyr317His
CA16020903
NM_000277.3:c.949T>C