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
ENSP00000440520.1:p.[Ser376_Tyr378del;Ser380_Val389delinsGly;Leu391_Asp392delinsSer;Glu394_Val395delinsPro;Asn398_Trp402del;Asp404_Leu405delinsProThr]
CA10585374
ENST00000535915.5:c.1122_1126dup