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.[Asn680_Leu685delinsGluPro;Glu688_Ala692del;Pro694_Ser696del;Ala698_Ile709delinsGlyGly]
CA2497030090
ENST00000252444.10:c.2037_2038insG