Canonical Allele Identifier: PA2826212471
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251358
ClinVar RCV Id: RCV000238041 RCV000586459 RCV002365241 RCV003327389
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asp180_Asp186dup
CA10585050
NM_001195799.2:c.540_560dup