ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830465693
Gene: CACNB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
190717
ClinVar RCV Id:
RCV000170858
RCV000703877
RCV000852603
RCV003226235
RCV002399604
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_963866.2:p.Val516Ile
CA301823
NM_201572.4:c.1546G>A