ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830464027
Gene: CACNB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418104
ClinVar RCV Id:
RCV000483582
RCV002395141
RCV002481497
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_963864.1:p.Arg515Pro
CA5430130
NM_201570.2:c.1544G>C