ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826318337
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
374482
ClinVar RCV Id:
RCV000416025
RCV002521469
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230111.1:p.Ile1073Val
CA16043757
NM_001243182.2:c.3217A>G