ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826106040
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
446936
ClinVar RCV Id:
RCV000518729
RCV000807225
RCV001528226
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001167551.1:p.Ala2008Thr
CA9239505
NM_001174080.2:c.6022G>A