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_011526312.1:p.[Leu782_Asn793delinsTyrGlyArgThrGlyGlyLeuArgThrSerThrAla;Ile795_Asn799delinsThrLeuThrThr;Val801_Ile812delinsSerIleArgArgProGlnArgMetArgSerThrPhe]
CA645509302
XM_011528010.2:c.2344_2347del