ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827282633
Gene: CACNB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
519506
ClinVar RCV Id:
RCV000617371
RCV001193384
RCV002531799
ClinVar Variation Id:
967076
ClinVar RCV Id:
RCV001241897
RCV002402765
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001316989.1:p.Val475Leu
CA5430135
NM_001330060.2:c.1423G>C
CA5430136
NM_001330060.2:c.1423G>T