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Canonical Allele Identifier: Get Identifier
Gene: PAH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011536724.1:p.[Leu249_Asp253delinsGly;Gly256_Gly257insTrpPro;Ala259_Phe263delinsProSerLeuProLeu;Cys265del;Gln267_Met276delinsValHisGlnThrTrpIleGlnAlaHisVal;Thr278del;Glu280_Pro281delinsArgThr]
CA2831039776
XM_011538422.1:c.745_755del