Canonical Allele Identifier: PA2826215884
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1791406
ClinVar RCV Id: RCV002455408

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Lys648Arg
CA404098866
NM_001195800.2:c.1943A>G