Allele Registry

Canonical Allele Identifier: PA2826215616

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237554

RCV001057854

ClinVar Variation:

252192

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182729.1:p.Ala516Thr	CA038311 NM_001195800.2:c.1546G>A