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.[Cys337_Asp346delinsSerSerValArgLysAlaSerSerTrpThr;His348_Lys350delinsThrArgArgPro;Cys352_Gly356delinsArgLeuTrpAlaPro;Ile358_Phe363delinsProThrSerSerSerPro;Asn365_Arg366delinsGly]
CA645373247
ENST00000560467.2:c.1010del