ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827326196
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_001317507.1:p.Ile851Val
CA200886
NM_001330578.2:c.2551A>G