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.[Tyr248_Cys250delinsSer;Cys252_Asp259delinsVal;His261_Ala267del;Gly269_Thr277del]
CA10585316
NM_001195803.2:c.742_743insC