ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830466958
Gene: CACNB2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_963884.2:p.[Ile588_Ser589del;Lys591Ter]
CA2580081383
NM_201590.3:c.1758_1762dup