Allele Registry

Canonical Allele Identifier: PA645380217

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000455987

RCV002526380

ClinVar Variation:

403664

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Ile687Phe	CA16609819 NM_000527.5:c.2059A>T