Canonical Allele Identifier: PA2825598709
Gene: CACNA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 421988
ClinVar RCV Id: RCV000732133 RCV000764175 RCV001087818 RCV002311805 RCV003985362
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001120694.1:p.Arg2169Cys
CA9239341
NM_001127222.2:c.6505C>T