Allele Registry

Canonical Allele Identifier: PA645377684

Gene: LDLR HGNC NCBI

ClinVar Allele:

362694

ClinVar RCV:

RCV000417243

ClinVar Variation:

375802

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Glu308Asp	CA16602317 NM_000527.5:c.924A>T CA404081060 NM_000527.5:c.924A>C