Canonical Allele Identifier: PA2827329242
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 2572561
ClinVar RCV Id: RCV003314446
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317508.1:p.Asn794Lys
CA388034704
NM_001330579.2:c.2382T>A
CA388034710
NM_001330579.2:c.2382T>G