Canonical Allele Identifier: PA254449
Gene: CACNA1A HGNC NCBI
ClinVar RCV:
RCV000009021
ClinVar Variation:
8498
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_075461.2:p.Phe1493Ser
CA254443
NM_023035.3:c.4478T>C