Canonical Allele Identifier: PA916070682
Gene: CACNA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 452992
ClinVar RCV Id: RCV000521823 RCV001858044 RCV003458453
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_075461.2:p.Ser2198Leu
CA404330599
NM_023035.3:c.6593C>T