Allele Registry

Canonical Allele Identifier: PA2826214531

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238284

ClinVar Variation:

251527

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182729.1:p.Asp139Glu	CA10585197 NM_001195800.2:c.417T>G CA404081054 NM_001195800.2:c.417T>A