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
ENSP00000252444.6:p.[Gly205_Phe212delinsValProGlu;Cys214_Cys220delinsHis;Asp222_Gly223del;Asp225_Glu226del;Ser228_Val231delinsValArg;Thr233_Cys234del]
CA2695223192
ENST00000252444.10:c.613_614insTTCC