Allele Registry

Canonical Allele Identifier: PA2580467961

Gene: SPG11 HGNC NCBI

ClinVar RCV:

RCV002937235

ClinVar Variation:

2049719

HGVS (amino-acid)	Matching Registered Transcripts
NP_079413.3:p.Val2053Leu	CA392218183 NM_025137.4:c.6157G>T CA392218184 NM_025137.4:c.6157G>C