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Canonical Allele Identifier: Get Identifier
Gene: PAH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.[Glu370_Gln383delinsAlaGlyGluAspSerHisProLysLeuHisCysHisGlyVal;Leu385_Val388del;Glu390_Lys396delinsProLeuLeuArgGlyArg;Lys398Phe]
CA2695217226
NM_000277.3:c.1103_1106dup