Canonical Allele Identifier: PA2826213018
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183138
ClinVar RCV Id: RCV000162023 RCV000241875 RCV000237576 RCV001082380 RCV002326922
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Ala350Thr
CA023426
NM_001195799.2:c.1048G>A