ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825948642
Gene: SPG11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188332
ClinVar RCV Id:
RCV000710226
RCV001083164
RCV001847796
RCV002362862
RCV003917575
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153699.1:p.Leu2244Phe
CA334634
NM_001160227.2:c.6730C>T