Canonical Allele Identifier: PA645376631
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251328
ClinVar RCV Id: RCV000238110 RCV000775045 RCV002365238 RCV004017545 RCV001729479 RCV003409368
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Glu208Lys
CA10585018
NM_000527.5:c.622G>A