ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499263294
Gene: SOX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1299707
ClinVar RCV Id:
RCV001730167
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003097.1:p.Met197Val
CA355474210
NM_003106.4:c.589A>G