Canonical Allele Identifier: PA229423
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102583
ClinVar RCV Id: RCV000088821 RCV001199987
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Glu422Lys
CA229422
NM_000277.3:c.1264G>A