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
ENSP00000453557.1:p.[Cys75del;Gly77_Arg78delinsAla;Asn80_Gln85delinsSerThrAlaAla;Trp87_Asp90delinsLeuSerSerGly;Gln92_Glu101delinsAlaMetAlaLysTrpThrAlaThrThrAla;Gly103_Cys104delinsThrSerLysAlaVal]
CA2497030103
ENST00000557933.5:c.223_226del