Allele Registry

Canonical Allele Identifier: PA250722

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000030126

RCV001248956

ClinVar Variation:

36454

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Ala431Pro	CA023446 NM_000527.5:c.1291G>C