Canonical Allele Identifier: PA250498
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3743
ClinVar RCV Id: RCV000003941

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Cys109Ser
CA023694
NM_000527.5:c.326G>C
CA404076224
NM_000527.5:c.325T>A