ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645391205
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
312380
ClinVar RCV Id:
RCV000372640
RCV000780935
RCV003151766
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000044.2:p.Pro1141Arg
CA6988687
NM_000053.4:c.3422C>G