ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826106413
Gene: CACNA1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288783
ClinVar RCV Id:
RCV000260147
RCV001044457
RCV003235180
RCV004021263
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001167551.1:p.Ala2260Val
CA9239268
NM_001174080.2:c.6779C>T