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: SMN2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000486152.1:p.[Gly6_Val12delinsArgArgGlnTrpTrpArgArg;Glu14_Leu20delinsGlyAlaGlyGly;Arg23_Asp35delinsAlaValProAlaArgHisArgProGluArg]
CA1554041041
ENST00000626847.2:c.15dup