Allele Registry

Canonical Allele Identifier: PA2826211529

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000454616

ClinVar Variation:

403630

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Cys128Ser	CA16609803 NM_001195798.2:c.383G>C CA404076327 NM_001195798.2:c.382T>A