Allele Registry

Canonical Allele Identifier: PA645375850

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000238518

ClinVar Variation:

251177

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Cys121Phe	CA10584876 NM_000527.5:c.362G>T