Canonical Allele Identifier: PA2826212260
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 438695
ClinVar RCV Id: RCV000505575

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys114Ser
CA404076578
NM_001195799.2:c.340T>A
CA404076587
NM_001195799.2:c.341G>C