Canonical Allele Identifier: PA104960
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102484
ClinVar RCV Id: RCV000088715 RCV000586982
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Ala345Ser
CA286497
NM_000277.3:c.1033G>T