Allele Registry

Canonical Allele Identifier: PA645376263

Gene: LDLR HGNC NCBI

ClinVar Allele:

245611

ClinVar RCV:

RCV000237204

ClinVar Variation:

251275

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Cys173Tyr	CA10584965 NM_000527.5:c.518G>A