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
XP_016874859.1:p.Leu48Phe
CA386302341
XM_017019370.2:c.144G>T
CA386302343
XM_017019370.2:c.144G>C