Allele Registry

Canonical Allele Identifier: PA645377466

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238004

ClinVar Variation:

251493

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Ile290dup	CA10585167 NM_000527.5:c.869_871dup