Allele Registry

Canonical Allele Identifier: PA915999258

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238284

ClinVar Variation:

251527

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Asp307Glu	CA10585197 NM_001195798.2:c.921T>G CA404081054 NM_001195798.2:c.921T>A