ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139761585
Gene: SPG11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
847223
ClinVar RCV Id:
RCV001050726
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079413.3:p.Val1891Met
CA392221705
NM_025137.4:c.5671G>A