ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825279940
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2026537
ClinVar RCV Id:
RCV002858414
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005918.1:p.Gln888Arg
CA388028724
NM_001005918.3:c.2663A>G