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
ENSP00000440520.1:p.[Phe766_Trp772delinsTyrGlyArgThrGlyGlyLeu;Leu774_Asn778delinsThrSerThrAla;Ile780_Asn784delinsThrLeuThrThr;Val786_Ile797delinsSerIleArgArgProGlnArgMetArgSerThrPhe]
CA10585863
ENST00000535915.5:c.2297_2303del