Canonical Allele Identifier: PA645408196
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 406519
ClinVar RCV Id: RCV000456956 RCV000658710 RCV001252107 RCV002467808 RCV002339138 RCV002467809 RCV003483617 RCV003488606
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079413.3:p.Glu1707Asp
CA7534494
NM_025137.4:c.5121G>T
CA392223269
NM_025137.4:c.5121G>C