Canonical Allele Identifier: PA658655270
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_000518.1:p.Asp227_Glu228insSerGlyLysProAspCys
CA658653705
NM_000527.5:c.681_682insTCAGGGAAACCCGACTGC