Allele Registry

Canonical Allele Identifier: PA2826216392

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000211697

RCV001853401

RCV002408914

ClinVar Variation:

226345

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Asp229Tyr	CA10576297 NM_001195803.2:c.685G>T