ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916070612
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
542823
ClinVar RCV Id:
RCV000653326
RCV002532006
RCV003411551
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075461.2:p.Arg2156Gln
CA9239362
NM_023035.3:c.6467G>A