Canonical Allele Identifier: PA645408135
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 284761
ClinVar RCV Id: RCV000259263 RCV000811912 RCV002467716 RCV002379128 RCV002467715
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079413.3:p.Leu327Val
CA7535662
NM_025137.4:c.979C>G