Allele Registry

Canonical Allele Identifier: PA2826213838

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237554

RCV001057854

ClinVar Variation:

252192

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Ala643Thr	CA038311 NM_001195799.2:c.1927G>A