ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091921
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
37122
ClinVar RCV Id:
RCV000023582
RCV000727509
RCV002453275
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Ile1148Thr
CA259856
NM_000053.4:c.3443T>C