Canonical Allele Identifier: PA916001431
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3743
ClinVar RCV Id: RCV000003941

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys68Ser
CA023694
NM_001195799.2:c.203G>C
CA404076224
NM_001195799.2:c.202T>A