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.[Asp451_Val453delinsThr;Gly455_Val457del;Val459Trp;Asp461_Thr469delinsLeuSerLeu;Phe471del;Glu473_Lys477delinsIle]
CA645373232
ENST00000535915.5:c.1351del