Allele Registry

Canonical Allele Identifier: PA2826213642

Gene: LDLR HGNC NCBI

ClinVar Variation Id: 252052

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Phe568Leu	CA10585632 NM_001195799.2:c.1702T>C CA404089853 NM_001195799.2:c.1704C>A CA404089854 NM_001195799.2:c.1704C>G