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
ENSP00000397829.2:p.[Pro351_Asp357delinsGlnThrHisProThrGlnGly;Val359_Gly361delinsSerTrpTrpIleLeu;Tyr364_Trp365delinsAlaSerCys;Asp367_Trp368delinsGlyLeuThr;Thr370delinsGluLeu;Ala372_Lys375delinsProArgSerArg;Gly378_Asn380delinsAla]
CA2813598415
ENST00000455727.6:c.1051_1052insAAACACACCCAACA