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
NP_001182732.1:p.[Gly77_Arg78delinsAla;Asn80_Gln85delinsSerThrAlaAla;Trp87_Asp90delinsLeuSerSerGly;Gln92_Glu101delinsAlaMetAlaLysTrpThrAlaThrThrAla;Gly103_Pro105delinsThrSerLysAla;Val106_Ala107insLeuTrp]
CA10584798
NM_001195803.2:c.230del