Allele Registry

Canonical Allele Identifier: PA2826213082

Gene: LDLR HGNC NCBI

ClinVar Allele:

246053

ClinVar RCV:

RCV000237679

ClinVar Variation:

251739

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Glu367Ala	CA10585363 NM_001195799.2:c.1100A>C