ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091963
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188831
ClinVar RCV Id:
RCV000169179
RCV000362786
RCV002433726
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Pro992Leu
CA274013
NM_000053.4:c.2975C>T