ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573089248
Gene: SOX10
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008872.1:p.Gly139Asp
CA411500054
NM_006941.4:c.416G>A