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.[Asn388_Lys391delinsLysCysGlnGly;Glu392_Lys393insSer;Val394_Ala399delinsGluLeuCysCysHisAsn;Ile401_Phe405delinsSerAlaLeuLeuSer;Val407Leu;Tyr409_Asp410del;Tyr412_Val418delinsIleHisProLysAsp]
CA682822360
ENST00000307000.7:c.1164_1165del