Canonical Allele Identifier: PA916070250
Gene: CACNA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 383814
ClinVar RCV Id: RCV000419668 RCV001233140 RCV003362783
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_075461.2:p.Phe1558Leu
CA9239969
NM_023035.3:c.4674C>G
CA404338530
NM_023035.3:c.4674C>A
CA404338535
NM_023035.3:c.4672T>C