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Canonical Allele Identifier: Get Identifier
Gene: ATP7B HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000044.2:p.[Thr993_Val997delinsAsnGlyCysHisGly;Thr999delinsHisArg;Val1001_Ala1002delinsGlyArg;Gln1004_Lys1013delinsGluArgHisProHisGlnGlyArgGlnAla;Leu1015_Met1017delinsGlyAspGly;His1019_Ile1021delinsGlnAsp]
CA2695218766
NM_000053.4:c.2977dup