ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645449654
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_001120693.1:p.Thr1997Met
CA9239512
NM_001127221.2:c.5990C>T