Allele Registry

Canonical Allele Identifier: PA2826212338

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000003871

RCV000161958

RCV000588687

RCV002345224

ClinVar Variation:

3686

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Ser136Leu	CA023715 NM_001195799.2:c.407C>T