Canonical Allele Identifier: PA2580170756
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2453918
ClinVar RCV Id: RCV003188053

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys696Ser
CA404093862
NM_001195798.2:c.2086T>A
CA404093870
NM_001195798.2:c.2087G>C