ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA274021
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188839
ClinVar RCV Id:
RCV000169188
RCV001596981
RCV003422061
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Arg1151Cys
CA274020
NM_000053.4:c.3451C>T