Canonical Allele Identifier: PA2825948642
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 188332
ClinVar RCV Id: RCV000710226 RCV001083164 RCV001847796 RCV002362862 RCV003917575
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001153699.1:p.Leu2244Phe
CA334634
NM_001160227.2:c.6730C>T