Allele Registry

Canonical Allele Identifier: PA645378398

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237834

ClinVar Variation:

251772

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Asp433Tyr	CA10585391 NM_000527.5:c.1297G>T