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_001182729.1:p.[Ala444_Asp448delinsArgThr;Val450Tyr;Trp452_Asp454delinsGlyGln;Ile456_Ile460delinsSerSerThrLysPro;Ala463_Leu466delinsValPro;Gly468Ala;Asp470Gln;Asn472_Ala475delinsProMetSerThrCysTrp]
CA10588898
NM_001195800.2:c.1326_1335del