ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830467584
Gene: CACNB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
810766
ClinVar RCV Id:
RCV000999612
RCV002391068
RCV003769376
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_963887.2:p.Gln514Lys
CA376071630
NM_201593.3:c.1540C>A