Allele Registry

Canonical Allele Identifier: PA645375912

Gene: LDLR HGNC NCBI

ClinVar RCV:

RCV000237938

RCV002227549

ClinVar Variation:

251189

1321222

HGVS (amino-acid)	Matching Registered Transcripts
NP_000518.1:p.Phe126Leu	CA10584888 NM_000527.5:c.376T>C CA404076320 NM_000527.5:c.378C>A CA404076321 NM_000527.5:c.378C>G