Allele Registry

Canonical Allele Identifier: PA2825948673

Gene: SPG11 HGNC NCBI

ClinVar RCV:

RCV000518466

RCV000540747

RCV001584232

RCV002376955

ClinVar Variation:

448469

HGVS (amino-acid)	Matching Registered Transcripts
NP_001153699.1:p.Gln2274His	CA7533860 NM_001160227.2:c.6822A>T CA392211876 NM_001160227.2:c.6822A>C