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Canonical Allele Identifier: Get Identifier
Gene: ATP7A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000509233.1:p.[Arg636_Arg648delinsGlyGln;Trp650_Leu655del;Ser657_Met665delinsThr]
CA2579650171
ENST00000686133.1:c.1906del