This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: CACNA1A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001120693.1:p.[Arg988Pro;Gly990_Gly999delinsAlaAlaArgAlaArgAlaArgAlaProThr;Glu1001_Gly1009delinsAlaSerAlaGlyGluGlyThrGlyMet;Ala1010_Pro1011insLeuGln;Ala1012Arg;Tyr1014_Glu1015delinsArg;Asp1017Thr]
CA658658786
NM_001127221.2:c.2961_2962dup