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
NP_001182732.1:p.[Val491Tyr;Trp493_Asp495delinsGlyGln;Ile497_Ile501delinsSerSerThrLysPro;Ala504_Leu507delinsValPro;Gly509Ala;Asp511Gln;Asn513_Asn518delinsProMetSerThrCysTrp;Leu520delinsLysThrTyr]
CA891844319
NM_001195803.2:c.1470del