ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645449436
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
422250
ClinVar RCV Id:
RCV000479702
RCV001205704
RCV002341143
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120693.1:p.Pro1178Arg
CA9240297
NM_001127221.2:c.3533C>G