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.[Val699_Asp702delinsLeuArgThr;Val704Tyr;Trp706_Asp708delinsGlyGln;Ile710_Ile714delinsSerSerThrLysPro;Ala717_Leu720delinsValPro;Gly722Ala;Asp724Gln;Asn726_Ala729delinsProMetSerThrCysTrpLeu]
CA2697556251
ENST00000252444.10:c.2095_2098del