This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: PAH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000446658.1:p.Thr117Lys
CA267653
ENST00000546844.1:c.350del
CA386303922
ENST00000546844.1:c.350C>A