Allele Registry

Canonical Allele Identifier: PA645376459

Gene: LDLR HGNC NCBI

ClinVar Variation Id: 237874

ClinVar RCV Id: RCV001298448

ClinVar Variation Id: 3073949

ClinVar RCV Id: RCV004012491

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Ser195Arg	CA10583775 NM_000527.5:c.585C>A CA404077553 NM_000527.5:c.583A>C CA404077564 NM_000527.5:c.585C>G