Canonical Allele Identifier: PA229349
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102527
ClinVar RCV Id: RCV000088760 RCV001543653
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Lys371Arg
CA229348
NM_000277.3:c.1112A>G