ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830469586
Gene: CACNB2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_963891.1:p.Ser511Leu
CA340919
NM_201597.3:c.1532C>T