Canonical Allele Identifier: PA106489
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 598
ClinVar RCV Id: RCV000000629 RCV000089111
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Ser273Phe
CA229785
NM_000277.3:c.818C>T