Canonical Allele Identifier: PA2826212501
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2125438
ClinVar RCV Id: RCV003043619
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asp183del
CA2580096489
NM_001195799.2:c.547_549del