Canonical Allele Identifier: PA1139761049
Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 976017
ClinVar RCV Id: RCV001253183
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079413.3:p.Leu1242Pro
CA392230392
NM_025137.4:c.3725T>C