Allele Registry

Canonical Allele Identifier: PA2826214282

Gene: LDLR HGNC NCBI

ClinVar Variation Id: 251035

ClinVar RCV Id: RCV000237363

ClinVar Variation Id: 926432

ClinVar RCV Id: RCV001189028

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182729.1:p.Ser49Arg	CA10584767 NM_001195800.2:c.147C>A CA404074874 NM_001195800.2:c.145A>C CA404074887 NM_001195800.2:c.147C>G