Canonical Allele Identifier: PA915999075
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183096
ClinVar RCV Id: RCV000161967

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys276Ser
CA023771
NM_001195798.2:c.827G>C
CA404080512
NM_001195798.2:c.826T>A