Canonical Allele Identifier: PA2826211306
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251034
ClinVar RCV Id: RCV000238312 RCV001377111 RCV002392738 RCV003328575
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp47Asn
CA041918
NM_001195798.2:c.139G>A