Canonical Allele Identifier: PA915999282
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_001182727.1:p.[Lys311Arg;Cys313Trp]
CA645373256
NM_001195798.2:c.[932A>G;939C>G]
CA658656796
NM_001195798.2:c.932_939delinsGAGAGTGG