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.[Ser530_Asp531del;Ser533_Ile537delinsThr;Ser539_Asp543delinsPro;Ala545_Ile559delinsGlu]
CA16602329
ENST00000252444.10:c.1588del