Allele Registry

Canonical Allele Identifier: PA658661462

Gene: SPG11 HGNC NCBI

ClinVar RCV:

RCV000528211

RCV002438391

RCV003238770

ClinVar Variation:

466517

HGVS (amino-acid)	Matching Registered Transcripts
NP_079413.3:p.Glu958Asp	CA7535113 NM_025137.4:c.2874A>C CA392229563 NM_025137.4:c.2874A>T