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
ENSP00000433888.2:p.[Ser229delinsLeuAla;Leu231_Leu232delinsCysTyr;Phe234_Tyr251delinsAlaLeuGlnSerArgSerSerCysTrpArgTrpAsnSerThrGlnThrIleGlu;Glu253_Pro258delinsThrArgThrCysArg]
CA2613985901
ENST00000524862.6:c.686del