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Canonical Allele Identifier: Get Identifier
Gene: ATP7B HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000500964.2:p.[Cys575_Ser577delinsAspLeuArgValLeu;Val579delinsProGln;Asn581_Thr601delinsArgValGlnThrHisGluAspLysTrpHisHisLeuCysLeuArgCysProCysHisGlnGln;Lys603del]
CA2695218073
ENST00000674147.2:c.1718_1721dup