Canonical Allele Identifier: PA645510832
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_000518.1:p.Asp360Glu
CA031958
NM_000527.5:c.1080T>G
CA404083204
NM_000527.5:c.1080T>A