Allele Registry

Canonical Allele Identifier: PA645377992

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000497231

ClinVar Variation:

431519

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Glu357Gln	CA404083133 NM_000527.5:c.1069G>C