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
ENSP00000499449.1:p.[Arg1053Pro;Gly1055_Gly1064delinsAlaAlaArgAlaArgAlaArgAlaProThr;Glu1066_Gly1074delinsAlaSerAlaGlyGluGlyThrGlyMet;Ala1075_Pro1076insLeuGln;Ala1077Arg;Tyr1079_Glu1080delinsArg;Asp1082Thr]
CA658658786
ENST00000664864.1:c.3156_3157dup