Canonical Allele Identifier: PA104990
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102547
ClinVar RCV Id: RCV000088781 RCV000781679
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Ala395Pro
CA229373
NM_000277.3:c.1183G>C