ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916062784
Gene: SPG7
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000461245
ClinVar Variation:
411681
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_955399.1:p.Val311Glu
CA16615322
NM_199367.3:c.932T>A