Canonical Allele Identifier: PA2825138253
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 987913
ClinVar RCV Id: RCV001269322

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Pro416Thr
CA16020980
NM_000277.3:c.1246C>A