ClinGen Allele Registry
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Canonical Allele Identifier:
PA916069609
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68439
ClinVar RCV Id:
RCV000059309
RCV002514302
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075461.2:p.Arg195Lys
CA266071
NM_023035.3:c.584G>A