Canonical Allele Identifier: PA658661432
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 466504
ClinVar RCV Id: RCV000531513 RCV002384151
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079413.3:p.Gln461His
CA270102289
NM_025137.4:c.1383G>T
CA392235958
NM_025137.4:c.1383G>C