Canonical Allele Identifier: PA645375238
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 250985
ClinVar RCV Id: RCV000237997 RCV001182217 RCV003328574
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Ala19Val
CA10584735
NM_000527.5:c.56C>T