Canonical Allele Identifier: PA229286
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102479
ClinVar RCV Id: RCV000088710 RCV001379649
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Gly344Ser
CA229285
NM_000277.3:c.1030G>A