Canonical Allele Identifier: PA915998674
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251335
ClinVar RCV Id: RCV000237464 RCV000786352 RCV000781510 RCV001034621 RCV002365239 RCV004017546
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.His211Tyr
CA044139
NM_001195798.2:c.631C>T