ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830465640
Gene: CACNB2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_963866.2:p.Ser483Leu
CA340919
NM_201572.4:c.1448C>T