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
ENSP00000440520.1:p.[Ala571_Asp575delinsArgThr;Val577Tyr;Trp579_Asp581delinsGlyGln;Ile583_Ile587delinsSerSerThrLysPro;Ala590_Leu593delinsValPro;Gly595Ala;Asp597Gln;Asn599_Ala602delinsProMetSerThrCysTrp]
CA10588898
ENST00000535915.5:c.1707_1716del