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
ENSP00000454071.1:p.[Cys377_Asp386delinsSerSerValArgLysAlaSerSerTrpThr;His388_Lys390delinsThrArgArgPro;Cys392_Gly396delinsArgLeuTrpAlaPro;Ile398_Phe403delinsProThrSerSerSerPro;Asn405_Arg406delinsGly]
CA645373247
ENST00000558518.6:c.1130del