ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825946846
Gene: SPG11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406529
ClinVar RCV Id:
RCV000460702
RCV000713418
RCV001252106
RCV002374763
RCV003942477
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153699.1:p.Ser132Asn
CA7535855
NM_001160227.2:c.395G>A