ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827329877
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
312380
ClinVar RCV Id:
RCV000372640
RCV000780935
RCV003151766
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.Pro1057Arg
CA6988687
NM_001330579.2:c.3170C>G