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Canonical Allele Identifier: Get Identifier
Gene: ATP7B HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000500964.1:p.[Val239_Gln241delinsAlaAlaAsn;Ser243Gly;Ser245_Glu248delinsPhe;Thr250_Tyr255delinsArgArgAspCys;Pro257del;Val259_Ile260del;Pro262_Glu264del;Arg266_Ala268del]
CA912974780
ENST00000674147.1:c.714_715del