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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.[Gln232_Thr236delinsSerSer;Thr238_Phe240del;Arg243_Pro244delinsAlaLeu;Val245_Ala246insSer;Gly247_Leu248delinsSerAsp;Ser250_Asp253delinsTrpLeuAlaCys;Phe254_Leu255insPro;Gly257_Leu258delinsIleSerTrpVal;Phe260_Arg261delinsTrpProSer]
CA951236094
NM_000277.3:c.693del