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
ENSP00000397829.2:p.[Ser249_Tyr251del;Ser253_Val262delinsGly;Leu264_Asp265delinsSer;Glu267_Val268delinsPro;Asn271_Trp275del;Asp277_Leu278delinsProThr]
CA10585374
ENST00000455727.6:c.741_745dup