Canonical Allele Identifier: PA2826212645
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 189297
ClinVar RCV Id: RCV000172960 RCV001190239 RCV003398872
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Val230Ile
CA023769
NM_001195799.2:c.688G>A