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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.[Glu351_Gln364delinsAlaGlyGluAspSerHisProLysLeuHisCysHisGlyVal;Leu366_Val369del;Glu371_Lys377delinsProLeuLeuArgGlyArg;Lys379Phe]
CA2695217226
XM_011538422.1:c.1046_1049dup