ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825280054
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
382098
ClinVar RCV Id:
RCV000427717
RCV001828411
RCV002265761
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005918.1:p.Thr1001Met
CA6988621
NM_001005918.3:c.3002C>T