Canonical Allele Identifier: PA645408223
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 235362
ClinVar RCV Id: RCV000224214 RCV001085256 RCV001260212 RCV001847948 RCV002365166 RCV003919902
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079413.3:p.Asp2253Glu
CA7534007
NM_025137.4:c.6759C>G
CA392213948
NM_025137.4:c.6759C>A