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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.[Leu348_Leu350delinsProGlyAlaGly;Lys352_Gln364delinsAspSerHisProLysLeuHisCysHisGlyValProAla;Tyr367_Ala370delinsLeuArgGlyArg;Ser372del;Asn374_Lys377del]
CA229342
XM_011538422.1:c.1042dup