Canonical Allele Identifier: PA2826212766
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 453194
ClinVar RCV Id: RCV000519981
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.[Lys270Arg;Cys272Trp]
CA645373256
NM_001195799.2:c.[809A>G;816C>G]
CA658656796
NM_001195799.2:c.809_816delinsGAGAGTGG