Canonical Allele Identifier: PA2826212527
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 441190
ClinVar RCV Id: RCV000509513
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asp186_Glu187insSerGlyLysProAspCys
CA658653705
NM_001195799.2:c.558_559insTCAGGGAAACCCGACTGC