Canonical Allele Identifier: PA2826212892
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 982979
ClinVar RCV Id: RCV001262749

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys311del
CA1139666267
NM_001195799.2:c.931_933del