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Canonical Allele Identifier: Get Identifier
Gene: PAH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000303500.2:p.[Glu365_Gln378delinsAlaGlyGluAspSerHisProLysLeuHisCysHisGlyVal;Leu380_Val383del;Glu385_Lys391delinsProLeuLeuArgGlyArg;Lys393Phe]
CA2695217226
ENST00000307000.7:c.1088_1091dup