Allele Registry

Canonical Allele Identifier: PA300496

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000162008

RCV000238415

RCV001181781

RCV002415707

ClinVar Variation:

183130

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Gly701Ser	CA023635 NM_000527.5:c.2101G>A