ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645408179
Gene: SPG11
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000415188
RCV001197643
ClinVar Variation:
374071
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079413.3:p.Gly1262Val
CA16043489
NM_025137.4:c.3785G>T