ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830465838
Gene: CACNB2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_963866.2:p.[Ile590_Ser591del;Lys593Ter]
CA2580081383
NM_201572.4:c.1764_1768dup