ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA235682
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_000715.2:p.Ala511Thr
CA235681
NM_000724.3:c.1531G>A