ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830467593
Gene: CACNB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
190730
ClinVar RCV Id:
RCV000245105
RCV000458519
RCV000852602
RCV001706106
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_963887.2:p.Ser519Leu
CA301867
NM_201593.3:c.1556C>T