Allele Registry

Canonical Allele Identifier: PA916000884

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237688

RCV000786344

RCV001242724

RCV002418057

ClinVar Variation:

252136

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.His656Asn	CA037604 NM_001195798.2:c.1966C>A