Canonical Allele Identifier: PA2826212450
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1753763
ClinVar RCV Id: RCV002356208
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asp176_Cys181del
CA2580096468
NM_001195799.2:c.525_542del