Canonical Allele Identifier: PA913195254
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 633286
ClinVar RCV Id: RCV000781495 RCV000996752 RCV001830674
ClinVar Variation Id: 927821
ClinVar RCV Id: RCV001191328 RCV001797825
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Asp472Asn
CA404085864
NM_000527.5:c.1414G>A
CA913188994
NM_000527.5:c.1413_1414delinsGA