Canonical Allele Identifier: PA2825138166
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 932253
ClinVar RCV Id: RCV001199977
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Leu348Pro
CA16020922
NM_000277.3:c.1043T>C