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Canonical Allele Identifier: Get Identifier
Gene: ATP7A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000509277.1:p.[His696_Ser716delinsPhePheTyrValProGlyAlaProAspSerSerArgIleValCysTyrGluPheAlaValLeu;Leu718_Leu719delinsIleVal;Val721_Gln724delinsThrCysThrVal]
CA2580101494
ENST00000689649.1:c.2086_2087del