Canonical Allele Identifier: PA1139686586
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 869388
ClinVar RCV Id: RCV001249594
ClinVar Variation Id: 1737013
ClinVar RCV Id: RCV002357847

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys93Ser
CA404076356
NM_001195799.2:c.277T>A
CA404076358
NM_001195799.2:c.278G>C