ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827327012
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
456557
ClinVar RCV Id:
RCV000541103
RCV001507826
RCV002350175
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.Val1161Gly
CA6988580
NM_001330578.2:c.3482T>G