Canonical Allele Identifier: PA2826212264
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 441186
ClinVar RCV Id: RCV000509276

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Ser116Asn
CA404076641
NM_001195799.2:c.347G>A