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.[Ala348_Asp360delinsSer;Asp362_Gly374delinsAlaLysMetArgArg;Lys376_Cys377delinsArg]
CA2695238668
ENST00000558518.6:c.1041_1042insA