Allele Registry

Canonical Allele Identifier: PA2826216234

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238284

ClinVar Variation:

251527

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Asp180Glu	CA10585197 NM_001195803.2:c.540T>G CA404081054 NM_001195803.2:c.540T>A