ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573288943
Gene: SPG11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1520098
ClinVar RCV Id:
RCV002024890
RCV002468384
RCV002261445
RCV002468385
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079413.3:p.Ala1756Gly
CA392222921
NM_025137.4:c.5267C>G