Canonical Allele Identifier: PA2580164377
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1753763
ClinVar RCV Id: RCV002356208

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp217_Cys222del
CA2580096468
NM_001195798.2:c.648_665del