Allele Registry

Canonical Allele Identifier: PA235466

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000162005

RCV000238255

RCV000590648

RCV002415706

ClinVar Variation:

183128

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Asp651Asn	CA354422 NM_000527.5:c.1951G>A