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
ENSP00000453513.2:p.[Phe767_Trp773delinsTyrGlyArgThrGlyGlyLeu;Leu775_Asn779delinsThrSerThrAla;Ile781_Asn785delinsThrLeuThrThr;Val787_Ile798delinsSerIleArgArgProGlnArgMetArgSerThrPhe]
CA10585863
ENST00000560467.2:c.2300_2306del