Canonical Allele Identifier: PA2826212248
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251234
ClinVar RCV Id: RCV000238165 RCV000484918 RCV000781509 RCV002518476 RCV003298312
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Ala110Pro
CA043633
NM_001195799.2:c.328G>C