Canonical Allele Identifier: PA2580170129
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1986771
ClinVar RCV Id: RCV002805603

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Thr413Arg
CA404084747
NM_001195798.2:c.1238C>G