Canonical Allele Identifier: PA645510836
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440626
ClinVar RCV Id: RCV000508767 RCV002358394
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Leu385Pro
CA404083801
NM_000527.5:c.1154T>C