ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091938
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3865
ClinVar RCV Id:
RCV000004069
RCV000507833
RCV000597397
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Leu708Pro
CA252902
NM_000053.4:c.2123T>C