Allele Registry

Canonical Allele Identifier: PA645375963

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237592

ClinVar Variation:

251194

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Cys128Phe	CA10584893 NM_000527.5:c.383G>T