Allele Registry

Canonical Allele Identifier: PA645378975

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237154

ClinVar Variation:

251929

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Thr534Asn	CA10585522 NM_000527.5:c.1601C>A