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
ENSP00000453557.1:p.[Val613_Asp616delinsLeuArgThr;Val618Tyr;Trp620_Asp622delinsGlyGln;Ile624_Ile628delinsSerSerThrLysPro;Ala631_Leu634delinsValPro;Gly636Ala;Asp638Gln;Asn640_Ala643delinsProMetSerThrCysTrpLeu]
CA2697556251
ENST00000557933.5:c.1837_1840del