Allele Registry

Canonical Allele Identifier: PA100026

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237816

ClinVar Variation:

251278

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Asp175Tyr	CA10584969 NM_000527.5:c.523G>T