Allele Registry

Canonical Allele Identifier: PA100127

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000003930

RCV001851630

ClinVar Variation:

3732

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Asp433His	CA023450 NM_000527.5:c.1297G>C