Canonical Allele Identifier: PA916001137
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252254
ClinVar RCV Id: RCV000238564

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ser733Phe
CA10585805
NM_001195798.2:c.2198C>T