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Canonical Allele Identifier: Get Identifier
Gene: ATP7B HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000501045.2:p.[Ser334Val;Thr336_Ser345delinsGlnIleThrGlyLeuProValLeuIle;Gly347_Ser348delinsLeuAla;Pro350His;Asn352_Thr361delinsGluThrArgSerArgAlaHisAlaValPro;Ile363del]
CA2593284230
ENST00000673864.2:c.1000del