ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916070491
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
385307
ClinVar RCV Id:
RCV000440064
RCV000791047
RCV001068298
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075461.2:p.Thr2002Met
CA9239512
NM_023035.3:c.6005C>T