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
ENSP00000453346.1:p.[Gln722_Val727del;Leu729_Val736del;Thr738_Gln739del;Thr741_Arg744del;Val746del;Asp748_Thr749del;Arg751Gly]
CA2695228316
ENST00000558013.5:c.2164del