ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826106128
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000344424
RCV001040372
ClinVar Variation:
282735
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001167551.1:p.Gly2089Val
CA9239420
NM_001174080.2:c.6266G>T