Allele Registry

Canonical Allele Identifier: PA2826212701

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000497207

RCV000775605

RCV003323571

ClinVar Variation:

431515

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Thr250Pro	CA029979 NM_001195799.2:c.748A>C