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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.[Asn374_Lys377delinsLysCysGlnGly;Glu378_Lys379insSer;Val380_Ala385delinsGluLeuCysCysHisAsn;Ile387_Phe391delinsSerAlaLeuLeuSer;Val393Leu;Tyr395_Asp396del;Tyr398_Val404delinsIleHisProLysAsp]
CA682822360
XM_011538422.1:c.1122_1123del