Allele Registry

Canonical Allele Identifier: PA2826215539

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237182

RCV003079228

ClinVar Variation:

252135

2152309

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182729.1:p.Phe487Leu	CA10585700 NM_001195800.2:c.1461C>G CA404093221 NM_001195800.2:c.1459T>C CA404093238 NM_001195800.2:c.1461C>A