Allele Registry

Canonical Allele Identifier: PA2826216451

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237556

ClinVar Variation:

251678

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Tyr248Ser	CA10585317 NM_001195803.2:c.743A>C