Canonical Allele Identifier: PA229672
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102770
ClinVar RCV Id: RCV000089020 RCV000664975
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Cys217Arg
CA229671
NM_000277.3:c.649T>C