Canonical Allele Identifier: PA645375375
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251034
ClinVar RCV Id: RCV000238312 RCV001377111 RCV002392738 RCV003328575
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp47Asn
CA041918
NM_000527.5:c.139G>A