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: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453513.2:p.[Val295_Glu308delinsSerAlaThrTrpLeuGluThrAlaGlyThrGlyGlnMetAsn;Ile310Ser;Glu312_Asp320delinsSerAlaIleSerMetSerValArgIle;Asp322_Cys324delinsThrProAla]
CA1139666261
ENST00000560467.2:c.883del