Allele Registry

Canonical Allele Identifier: PA645408148

Gene: SPG11 HGNC NCBI

ClinVar Allele:

332054

ClinVar RCV:

RCV000318542

RCV001529614

RCV002402029

ClinVar Variation:

316108

HGVS (amino-acid)	Matching Registered Transcripts
NP_079413.3:p.Leu520Phe	CA7535527 NM_025137.4:c.1558C>T