ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645462730
Gene: SPG7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411681
ClinVar RCV Id:
RCV000461245
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003110.1:p.Val311Glu
CA16615322
NM_003119.4:c.932T>A