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
ENSP00000440520.1:p.[Phe588del;Ala590_Leu593delinsValPro;Gly595Ala;Asp597Gln;Asn599_Asn604delinsProMetSerThrCysTrp;Leu606_Leu613delinsLysThrTyrCysProGlnArgIleTrp;His615_Leu617delinsSerSerThrThrSer]
CA10585675
ENST00000535915.5:c.1763del