Allele Registry

Canonical Allele Identifier: PA916001431

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000003941

ClinVar Variation:

3743

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