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Canonical Allele Identifier: Get Identifier
Gene: PAH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000303500.2:p.[Leu244_Asp248delinsGly;Gly251_Gly252insTrpPro;Ala254_Phe258delinsProSerLeuProLeu;Cys260del;Gln262_Met271delinsValHisGlnThrTrpIleGlnAlaHisVal;Thr273del;Glu275_Pro276delinsArgThr]
CA2831039776
ENST00000307000.7:c.730_740del