Canonical Allele Identifier: PA2826214939
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1769469
ClinVar RCV Id: RCV002380907

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Glu267_Val268delinsValAla
CA2580096432
NM_001195800.2:c.800_803delinsTGGC