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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.[Ser231_Gly239delinsValSerIleProAlaAspLeuHisTrp;Arg241_Arg243delinsProPro;Val245_Ala246delinsThrCys;Leu248_Asp253delinsTrpProAlaPheLeuSerGly;Gly257_Phe260delinsTrpProGlyLeu]