Canonical Allele Identifier: PA916000305
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 406164
ClinVar RCV Id: RCV000475963
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ala521Val
CA034778
NM_001195798.2:c.1562C>T