ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825250234
Gene: CACNB2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000715.2:p.[Ile587_Ser588del;Lys590Ter]
CA2580081383
NM_000724.3:c.1755_1759dup