ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830467667
Gene: CACNB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1419126
ClinVar RCV Id:
RCV001954591
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_963887.2:p.His552Asn
CA5430163
NM_201593.3:c.1654C>A