ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658661492
Gene: SPG11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
466538
ClinVar RCV Id:
RCV000541207
RCV001848946
RCV002467875
RCV002467874
RCV003372748
RCV002509426
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079413.3:p.Arg1772His
CA7534430
NM_025137.4:c.5315G>A