ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826318508
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
92389
ClinVar RCV Id:
RCV000078053
RCV000490530
RCV002354273
RCV003333954
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230111.1:p.Val1186Ile
CA145689
NM_001243182.2:c.3556G>A