Allele Registry

Canonical Allele Identifier: PA645379055

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237102

RCV001854904

RCV004017561

ClinVar Variation:

251947

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Gly546Val	CA10585538 NM_000527.5:c.1637G>T