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
ENSP00000252444.6:p.[Phe893del;Leu895_Arg900delinsProSerMetGluGlu;Lys902_Glu921delinsAlaAla]
CA10585861
ENST00000252444.10:c.2675_2676insG
CA2573320459
ENST00000252444.10:c.2675dup