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_001182732.1:p.[Glu51_Thr62delinsGlyAlaArgMetAlaLeuMetSerProArgArgArgAla;Val66_Ser70delinsProAlaAsnPro;Asp72_Phe73delinsThr;Cys75_Gly76delinsAlaVal;Arg78Ala;Asn80delinsSerThr]
CA2695223179
NM_001195803.2:c.152del