Canonical Allele Identifier: PA2499251812
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1075546
ClinVar RCV Id: RCV001389170

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Glu182Lys
CA16020813
NM_001354304.2:c.544G>A