Allele Registry

Canonical Allele Identifier: PA645510839

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000508828

ClinVar Variation:

440630

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Gly396Asp	CA404084653 NM_000527.5:c.1187G>A