Allele Registry

Canonical Allele Identifier: PA645380018

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237688

RCV000786344

RCV001242724

RCV002418057

ClinVar Variation:

252136

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.His656Asn	CA037604 NM_000527.5:c.1966C>A