ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580132027
Gene: SP3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001017371.3:p.Val97Glu
CA349327945
NM_001017371.5:c.290T>A