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.[Ile94_Leu98delinsSer;His100_Leu109del;Arg111Ter]
CA2497030226
ENST00000546844.1:c.280_283del