Canonical Allele Identifier: PA658661539
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 466556
ClinVar RCV Id: RCV000526227 RCV002367857 RCV002467882 RCV002467883 RCV003227785
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079413.3:p.Ala2142Thr
CA7534136
NM_025137.4:c.6424G>A