ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830469662
Gene: CACNB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1062756
ClinVar RCV Id:
RCV001372508
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_963891.1:p.Ser541Phe
CA376071773
NM_201597.3:c.1622C>T