Canonical Allele Identifier: PA344373
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 41341
ClinVar RCV Id: RCV000034242 RCV000594035 RCV002467533 RCV002467534 RCV002477051
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079413.3:p.Val2053Met
CA344372
NM_025137.4:c.6157G>A