Canonical Allele Identifier: PA916000019
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251790
ClinVar RCV Id: RCV000238264

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Trp443Ser
CA10585407
NM_001195798.2:c.1328G>C