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Canonical Allele Identifier: Get Identifier
Gene: ATP7A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000509373.1:p.Pro657_Ter658insTyrGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsn
CA2580101491
ENST00000689872.1:c.1974del