ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825279686
Gene: ATP7B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1498975
ClinVar RCV Id:
RCV002035678
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005918.1:p.Gly719Ser
CA388034612
NM_001005918.3:c.2155G>A