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
NP_001182728.1:p.[Met1_Trp6delinsTrpAlaThrAspAla;Leu8_Trp10delinsGlu;Val12_Leu16delinsSerSerSer;Ala18_Gly20delinsLys;Ala22_Val23del;Asp25_Arg29del;Glu31_Asp36delinsAlaSerProThrSer;Lys38_Ile40del;Tyr42_Gly48delinsAlaMetAlaAlaLeu;Glu51_Cys52del]
CA2580096281
NM_001195799.2:c.1_67del