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: BSCL2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001372956.1:p.[Tyr120_Pro122del;Val124del;His126Ala;Ser128_Arg135delinsCysIleSerThrThrGlyPro;Asp137_Thr143delinsValIleProProProProHis;Leu145_Cys146delinsAlaPro;Phe148_Val153delinsLeuLeuProMet;Leu155Arg]
CA2580615711
NM_001386027.1:c.358_376del