Allele Registry

Canonical Allele Identifier: PA2826216233

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000509131

ClinVar Variation:

441199

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Asp180Tyr	CA404081050 NM_001195803.2:c.538G>T