ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658808081
Gene: SOX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535837
ClinVar RCV Id:
RCV000644036
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003097.1:p.Ala133Thr
CA2717265
NM_003106.4:c.397G>A