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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.[Asn223_Ile224delinsLysPhe;Gln226_Gln232delinsSerTrpLysThr;Gln235_Thr236delinsAsnSer;Thr238_Phe240del;Arg243_Pro244delinsAlaLeu;Val245_Ala246insSer;Gly247delinsSerAsp;Leu248_Leu249insTrp;Ser250_Asp253delinsAlaCysPheProLeuGly]