ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA200887
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193969
ClinVar RCV Id:
RCV000174213
RCV000587605
RCV001081569
RCV003955024
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Ile929Val
CA200886
NM_000053.4:c.2785A>G