ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826317830
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2774738
ClinVar RCV Id:
RCV003504084
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230111.1:p.Val714Met
CA388016853
NM_001243182.2:c.2140G>A