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
ENSP00000252444.6:p.[Val152_Ser156delinsHisLeuGlnIleArg;Asp158_Cys161delinsLeuGlnLeuTrp;Gly163_Cys181delinsProCysGlnProLeuHisSerSerValLeuGluValArgTrpProSerGlyLeuArg]
CA10576269
ENST00000252444.10:c.454_455del