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
ENSP00000453557.1:p.[Arg253_Val268delinsValThr;Cys270_Val271del;Val273Met;Leu275_Cys284delinsAlaArgThr]
CA2573050586
ENST00000557933.5:c.756_762del