Canonical Allele Identifier: PA916000992
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252193
ClinVar RCV Id: RCV000238125
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Pro685Thr
CA10585747
NM_001195798.2:c.2053C>A