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.[Thr725_Ala730delinsGlnCysLeuThrLys;Gly732_Val734delinsTrp;Gly736_Asn739delinsThrLeuLeuAla;Lys741_Val746delinsGluMetArg;Ala748_Leu749del;Ile751Pro;Leu753_Pro754delinsAla]
CA2695228319
ENST00000535915.5:c.2173del