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_001182728.1:p.[Phe588Ser;Ala590_Leu593delinsValPro;Gly595Ala;Asp597Gln;Asn599_Asn604delinsProMetSerThrCysTrp;Leu606_Leu613delinsLysThrTyrCysProGlnArgIleTrp;His615_Leu617delinsSerSerThrThrSer]
CA2695228158
NM_001195799.2:c.1762_1763insCA