Canonical Allele Identifier: PA1139686054
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 927977

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Val727Ile
CA039072
NM_001195798.2:c.2179G>A