Canonical Allele Identifier: PA2826212678
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1066036

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys243Phe
CA404080659
NM_001195799.2:c.728G>T