ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827329751
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
312382
ClinVar RCV Id:
RCV000343352
RCV002261043
RCV002282117
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.Thr1008Met
CA6988748
NM_001330579.2:c.3023C>T