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.[Ala607_His614delinsHisArgGly;Phe616_Tyr618delinsSerCysSer;Thr620_Gly632delinsLeuHisVal;Asn634_Val636delinsAsp]
CA2573050604
ENST00000252444.10:c.1819_1820del