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.[Leu362_Leu364delinsProGlyAlaGly;Lys366_Gln378delinsAspSerHisProLysLeuHisCysHisGlyValProAla;Tyr381_Ala384delinsLeuArgGlyArg;Ser386del;Asn388_Lys391del]
CA229342
ENST00000307000.7:c.1084dup