Canonical Allele Identifier: PA2826212414
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251326
ClinVar RCV Id: RCV000238157
ClinVar Variation Id: 265899
ClinVar RCV Id: RCV000256237

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Gly166_Ser172del
CA10585016
NM_001195799.2:c.496_516del
CA10588893
NM_001195799.2:c.495_515del