ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830464489
Gene: CACNB2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_963865.2:p.Asp248Ala
CA203230590
NM_201571.4:c.743A>C