Canonical Allele Identifier: PA2825947213
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 219609
ClinVar RCV Id: RCV000206327 RCV000444113 RCV001260213 RCV001847925
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001153699.1:p.Asp566Glu
CA350373
NM_001160227.2:c.1698T>G
CA270084319
NM_001160227.2:c.1698T>A