ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091937
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
420002
ClinVar RCV Id:
RCV000631248
RCV001263514
RCV000587060
RCV002525825
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Leu641Ser
CA6989172
NM_000053.4:c.1922T>C