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: SC5D HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001020127.1:p.[Ser226_Thr245delinsCysGlnLeuIleIleGlnThrThrIleCysSerLeuThrIleIleMetAspAsnIleSer;Trp247_Arg249delinsCysGly;Gly252_Phe254delinsLeuAlaAlaHisSer]
CA2830548767
NM_001024956.3:c.676_677insGT