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Canonical Allele Identifier: Get Identifier
Gene: ATP7A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000343026.6:p.[His706_Ser726delinsPhePheTyrValProGlyAlaProAspSerSerArgIleValCysTyrGluPheAlaValLeu;Leu728_Leu729delinsIleVal;Val731_Gln734delinsThrCysThrVal]
CA2580101494
ENST00000343533.10:c.2116_2117del