Canonical Allele Identifier: PA2826212270
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 431510
ClinVar RCV Id: RCV000497104
ClinVar Variation Id: 441187

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys119Phe
CA404076712
NM_001195799.2:c.356G>T
CA645373224
NM_001195799.2:c.356_357delinsTT