Canonical Allele Identifier: PA100016
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3726
ClinVar RCV Id: RCV000003924 RCV000775043 RCV001090451 RCV002336075
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp175Asn
CA023713
NM_000527.5:c.523G>A