ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830466750
Gene: CACNB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1773621
ClinVar RCV Id:
RCV002397195
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_963884.2:p.Leu495Phe
CA376071600
NM_201590.3:c.1483C>T