Canonical Allele Identifier: PA106087
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102488
ClinVar RCV Id: RCV000088719 RCV001543642
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Leu347Phe
CA229296
NM_000277.3:c.1039C>T