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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.[Ser348Asp;Pro350His;Asn352_Gly356delinsGlu;Cys358Arg;Thr360_Ile363delinsArg;Ile365His;Gly367_Cys373del;His375_Ile377delinsProLeu]
CA610425841
ENST00000673864.2:c.1041_1042insGA