Canonical Allele Identifier: PA916070840
Gene: CACNA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 197539
ClinVar RCV Id: RCV000178595 RCV001315464 RCV002515266
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_075461.2:p.Ser2252Phe
CA245766
NM_023035.3:c.6755C>T