Canonical Allele Identifier: PA1139686029
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 923754
ClinVar RCV Id: RCV001184678

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Arg709del
CA1139666245
NM_001195798.2:c.2127_2129del