ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830463983
Gene: CACNB2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
188485
ClinVar RCV:
RCV000170872
RCV000618110
RCV001085407
RCV002281992
ClinVar Variation:
190729
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_963864.1:p.Arg483His
CA301858
NM_201570.2:c.1448G>A