Canonical Allele Identifier: PA2573288964
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1407899
ClinVar RCV Id: RCV001909377

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079413.3:p.Gly1812Arg
CA392222554
NM_025137.4:c.5434G>C
CA392222555
NM_025137.4:c.5434G>A