Allele Registry

Canonical Allele Identifier: PA2826216453

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237921

RCV001063149

RCV002436076

RCV003391007

ClinVar Variation:

251679

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Tyr248Cys	CA10585318 NM_001195803.2:c.743A>G