ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825280347
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
444316
ClinVar RCV Id:
RCV000513406
RCV000670982
RCV003488645
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005918.1:p.Gly1198Ser
CA6988455
NM_001005918.3:c.3592G>A