Allele Registry

Canonical Allele Identifier: PA645377579

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238200

RCV003581609

RCV004020953

ClinVar Variation:

251508

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Ala299Ser	CA10585180 NM_000527.5:c.895G>T