Canonical Allele Identifier: PA916000058
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2843694
ClinVar RCV Id: RCV003742085

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Arg458_Gly461delinsSer
CA915952546
NM_001195798.2:c.1374_1382del