Canonical Allele Identifier: PA2826213522
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2971852
ClinVar RCV Id: RCV003832914

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Leu530del
CA036098
NM_001195799.2:c.1588_1590del