Allele Registry

Canonical Allele Identifier: PA645375715

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237777

ClinVar Variation:

251130

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Cys104Phe	CA10584839 NM_000527.5:c.311G>T