Canonical Allele Identifier: PA229580
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102700
ClinVar RCV Id: RCV000088948 RCV000993614
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Ala165Thr
CA229579
NM_000277.3:c.493G>A