Allele Registry

Canonical Allele Identifier: PA645378276

Gene: LDLR HGNC NCBI

ClinVar Allele:

246053

ClinVar RCV:

RCV000237679

ClinVar Variation:

251739

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Glu408Ala	CA10585363 NM_000527.5:c.1223A>C