ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826051630
Gene: CACNB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
190731
ClinVar RCV Id:
RCV000170875
RCV000185501
RCV001079557
RCV002399605
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001161417.1:p.Ala500Thr
CA235681
NM_001167945.2:c.1498G>A