Canonical Allele Identifier: PA2580164403
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_001182727.1:p.Asp224del
CA2580096489
NM_001195798.2:c.670_672del