ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573316367
Gene: CACNB2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_963890.2:p.Arg511Cys
CA5430089
NM_201596.3:c.1531C>T