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
XP_011526313.1:p.[Tyr701_His713del;Gln715_Asp730delinsPhe]
CA040853
XM_011528011.1:c.2100_2101insAACTTCTGACAAC