ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658661468
Gene: SPG11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448466
ClinVar RCV Id:
RCV000517057
RCV000840197
RCV001084485
RCV002455996
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079413.3:p.Ile1146Val
CA7534984
NM_025137.4:c.3436A>G