ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580460368
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1806843
ClinVar RCV Id:
RCV002474272
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075461.2:p.Leu324del
CA2576643079
NM_023035.3:c.970_972del