ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891863187
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
591036
ClinVar RCV Id:
RCV000722212
RCV002533065
RCV002535024
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Cys271Arg
CA388041238
NM_000053.4:c.811T>C