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
XP_011526313.1:p.[Asn530_Leu531del;Gln533Ser;Arg535_Leu545del;Asn547_Cys550del;Tyr552_Gln559delinsGluGlu]
CA2497030097
XM_011528011.1:c.1589del