Canonical Allele Identifier: PA2827328133
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 2140354
ClinVar RCV Id: RCV003066827
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317508.1:p.Gly250Arg
CA6989503
NM_001330579.2:c.748G>A
CA388041654
NM_001330579.2:c.748G>C