ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916070098
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_075461.2:p.Pro1181Arg
CA9240297
NM_023035.3:c.3542C>G