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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.[Leu367_Leu369delinsProGlyAlaGly;Lys371_Gln383delinsAspSerHisProLysLeuHisCysHisGlyValProAla;Leu385_Ala389delinsValLeuArgGlyArg;Ser391del;Asn393_Lys396del]