ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825038297
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2060746
ClinVar RCV Id:
RCV002947958
RCV002947957
RCV003395542
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Leu641Val
CA250060805
NM_000053.4:c.1921T>G