Canonical Allele Identifier: PA2826213129
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1120245
ClinVar RCV Id: RCV001450031 RCV001508840 RCV002377745 RCV002557526
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Leu385Arg
CA404084869
NM_001195799.2:c.1154T>G