ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580282868
Gene: SP3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003102.1:p.Gly747Glu
CA1971529
NM_003111.5:c.2240G>A