Canonical Allele Identifier: PA2826217413
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 226394
ClinVar RCV Id: RCV000211657 RCV001034620 RCV001553637 RCV001529505 RCV002444850
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Val622_Leu624del
CA023662
NM_001195803.2:c.1863_1871del