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_000518.1:p.[Leu759_Met767del;His769_Gly777delinsProArgTrp;Gly779_Val787del]
CA10576331
NM_000527.5:c.2271del