ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580282534
Gene: SOX2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003097.1:p.Ala248Ser
CA2717315
NM_003106.4:c.742G>T