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_000518.1:p.[Val395_Ile398delinsTrp;Tyr400_Phe403delinsProSerPro;Asn405_Met412delinsSerSerSerProThrGly;Leu414_Asp415del;Glu418_Pro424delinsGlyArg]
CA10585339
NM_000527.5:c.1182del
CA2695202627
NM_000527.5:c.1183del