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
ENSP00000447620.1:p.Leu54Phe
CA386302290
ENST00000551337.5:c.162A>C
CA386302291
ENST00000551337.5:c.162A>T