Allele Registry

Canonical Allele Identifier: PA250731

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000030136

RCV001831614

RCV002453273

ClinVar Variation:

36463

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Cys121Tyr	CA023699 NM_000527.5:c.362G>A