Allele Registry

Canonical Allele Identifier: PA916055562

Gene: SPG11 HGNC NCBI

ClinVar RCV:

RCV000821731

RCV003480872

ClinVar Variation:

663780

HGVS (amino-acid)	Matching Registered Transcripts
NP_079413.3:p.Gln716Lys	CA270078409 NM_025137.4:c.2146C>A