Canonical Allele Identifier: PA105012
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102595
ClinVar RCV Id: RCV000088834 RCV000632880 RCV003407485
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Ala447Asp
CA229437
NM_000277.3:c.1340C>A