ClinGen Allele Registry
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Canonical Allele Identifier:
PA916070045
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
446915
ClinVar RCV Id:
RCV000518167
RCV002323878
RCV000810178
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075461.2:p.Arg1060His
CA9240397
NM_023035.3:c.3179G>A