Allele Registry

Canonical Allele Identifier: PA645408225

Gene: SPG11 HGNC NCBI

ClinVar Allele:

338994

ClinVar RCV:

RCV000459952

RCV001541266

RCV002365370

ClinVar Variation:

316078

HGVS (amino-acid)	Matching Registered Transcripts
NP_079413.3:p.Arg2293Trp	CA7533963 NM_025137.4:c.6877C>T