Canonical Allele Identifier: PA2580467696
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1956042
ClinVar RCV Id: RCV002700538
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079413.3:p.Met1712Ile
CA392223220
NM_025137.4:c.5136G>A
CA392223221
NM_025137.4:c.5136G>C
CA392223222
NM_025137.4:c.5136G>T