Allele Registry

Canonical Allele Identifier: PA645377671

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237783

RCV001854895

ClinVar Variation:

251526

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Asp307His	CA10585196 NM_000527.5:c.919G>C CA2695228128 NM_000527.5:c.918_919delinsCC