Canonical Allele Identifier: PA2826212927
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440624
ClinVar RCV Id: RCV000508886 RCV001829453
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asp319Glu
CA031958
NM_001195799.2:c.957T>G
CA404083204
NM_001195799.2:c.957T>A