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
ENSP00000252444.6:p.[Trp529_Ile537del;Ser539_Gln541del;Asp543_Asp552del;Val554_Ser556delinsCysPro;Asp558_Ile559delinsGlu]
CA2573050597
ENST00000252444.10:c.1587del