Canonical Allele Identifier: PA2580170116
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1740990

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Lys393Glu
CA404083956
NM_001195798.2:c.1177A>G