ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830464035
Gene: CACNB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1718765
ClinVar RCV Id:
RCV002301673
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_963864.1:p.Ser517Pro
CA376071768
NM_201570.2:c.1549T>C