ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826317583
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
420002
ClinVar RCV Id:
RCV000631248
RCV001263514
RCV000587060
RCV002525825
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230111.1:p.Leu530Ser
CA6989172
NM_001243182.2:c.1589T>C