ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827326843
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1396704
ClinVar RCV Id:
RCV001920029
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317507.1:p.Met1096Val
CA6988666
NM_001330578.2:c.3286A>G