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Canonical Allele Identifier: Get Identifier
Gene: ATP7A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000510693.1:p.[Phe780_Ile791delinsProTyrAlaValCysValTyrCysThrArgProMet;Leu793del;Arg795_Ala801delinsThrTyrSer;Lys804_Ala810delinsGlnAsnIleArgGlySerCys;Leu812_Ile813delinsValAsn]
CA2580612289
ENST00000686033.1:c.2337_2350del