Canonical Allele Identifier: PA254459
Gene: CACNA1A HGNC NCBI
ClinVar RCV:
RCV000009023
ClinVar Variation:
8500
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001120694.1:p.Glu1755Lys
CA254457
NM_001127222.2:c.5263G>A