Allele Registry

Canonical Allele Identifier: PA2826213890

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000182344

RCV000238290

RCV000775087

RCV002415774

RCV003477646

ClinVar Variation:

200923

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Asp659Asn	CA023633 NM_001195799.2:c.1975G>A