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
ENSP00000453696.2:p.Gly596_Ter597insCysLysProThrValProArgGlyTyrGlySerLeuProGlnProHisProAlaLysArgSerGluLeuVal
CA404092996
ENST00000559340.2:c.1791A>C
CA404093000
ENST00000559340.2:c.1791A>T