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
ENSP00000437639.1:p.[Asp474_His480delinsArgGlyTrpProThrProSer;Phe482delinsTrpPro;Ala485_Asp489delinsArgThr;Val491Tyr;Trp493_Asp495delinsGlyGln;Ile497_Ile501delinsSerSerThrLysPro;Ala504_Asn505delinsValPro]
CA2582475120
ENST00000545707.5:c.1419_1425del