Allele Registry

Canonical Allele Identifier: PA916000109

Gene: LDLR HGNC NCBI

ClinVar Variation Id: 251836

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Ala475Val	CA10585447 NM_001195798.2:c.1424C>T