Allele Registry

Canonical Allele Identifier: PA2826217244

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237688

RCV000786344

RCV001242724

RCV002418057

ClinVar Variation:

252136

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.His529Asn	CA037604 NM_001195803.2:c.1585C>A