Canonical Allele Identifier: PA2825597481
Gene: CACNA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 380972
ClinVar RCV Id: RCV000435974 RCV000624902 RCV000787277 RCV000763033 RCV001078138 RCV001251039 RCV002227161 RCV003333066 RCV003223404
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001120694.1:p.Arg1348Gln
CA16607714
NM_001127222.2:c.4043G>A