Allele Registry

Canonical Allele Identifier: PA2826215558

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000417270

ClinVar Variation:

375827

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182729.1:p.Pro493Leu	CA16602341 NM_001195800.2:c.1478C>T