Canonical Allele Identifier: PA229544
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102670
ClinVar RCV Id: RCV000088918 RCV000595460
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Pro147Leu
CA229543
NM_000277.3:c.440C>T