Allele Registry

Canonical Allele Identifier: PA916001472

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000030136

RCV001831614

RCV002453273

ClinVar Variation:

36463

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Cys80Tyr	CA023699 NM_001195799.2:c.239G>A