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
ENSP00000453696.2:p.[Tyr576_Arg579delinsSerSerThrLysProPhe;His581_Cys584delinsValProThrAlaSer;Pro586Val;His588_Arg591delinsMetSerThrCysTrpLeuLysThrTyr;Cys592_Gln593insPro;Leu594_Gly596delinsArgIleTrp]
CA10585666
ENST00000559340.2:c.1727_1728del