Canonical Allele Identifier: PA2826213282
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2193196
ClinVar RCV Id: RCV002643933

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Ala439Ser
CA404086034
NM_001195799.2:c.1315G>T