Allele Registry

Canonical Allele Identifier: PA2826212304

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237412

ClinVar Variation:

251262

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Asn128Ile	CA10584953 NM_001195799.2:c.383A>T