Allele Registry

Canonical Allele Identifier: PA916000389

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237154

ClinVar Variation:

251929

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Thr534Asn	CA10585522 NM_001195798.2:c.1601C>A