ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573287794
Gene: SPG11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1434058
ClinVar RCV Id:
RCV001984524
RCV003136336
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079413.3:p.Arg93His
CA7535879
NM_025137.4:c.278G>A