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.[Glu781_Val787delinsArg;Ala789_Leu790del;Ile792Pro;Leu794_Ile796del;Thr798_Asp810del]
CA2695228323
ENST00000557933.5:c.2341del