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
ENSP00000303500.2:p.[Thr273Tyr;Glu275_Asp291del;Ser293_Ile301delinsThr]
CA2499221400
ENST00000307000.7:c.815_816insC