ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830465659
Gene: CACNB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2699433
ClinVar RCV Id:
RCV003510486
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_963866.2:p.Glu501Lys
CA376071641
NM_201572.4:c.1501G>A