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.[Glu365_Gln378delinsArgArgGlnProSerLysIleThrLeuSerArgSerSerSer;Leu380_Glu392delinsSerIleThrTrpGlnArgValLeuMetMetProArgArg;Val394del]
CA2582341664
ENST00000307000.7:c.1093del