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.[Ile598_Glu602delinsMetArgMet;Leu605_Phe609delinsGlyTrpProThrPro;Leu611_Asp616delinsProTrpProSerLeuArgThr;Val618Tyr;Trp620_Asp622delinsGlyGln;Ile624_Ile628delinsSerSerThrLysPro]
CA2739276493
ENST00000558013.5:c.1794_1797del