ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827329351
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
312386
ClinVar RCV Id:
RCV000388607
RCV000999521
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317508.1:p.Arg835Trp
CA6988915
NM_001330579.2:c.2503C>T