ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827327187
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_001317507.1:p.Val1219Ile
CA145689
NM_001330578.2:c.3655G>A