Allele Registry

Canonical Allele Identifier: PA645378244

Gene: LDLR HGNC NCBI

ClinVar Allele:

246052

2997542

ClinVar RCV:

RCV000238220

RCV000791392

RCV003742073

ClinVar Variation:

251738

2842836

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Asn405Lys	CA10585362 NM_000527.5:c.1215C>G CA404084705 NM_000527.5:c.1215C>A