Canonical Allele Identifier: PA916000173
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251847

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Trp483Arg
CA10585457
NM_001195798.2:c.1447T>C
CA404086085
NM_001195798.2:c.1447T>A