Allele Registry

Canonical Allele Identifier: PA100016

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000003924

RCV000775043

RCV001090451

RCV002336075

ClinVar Variation:

3726

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Asp175Asn	CA023713 NM_000527.5:c.523G>A