ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580337885
Gene: SOX10
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2082063
ClinVar RCV Id:
RCV003007182
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008872.1:p.Glu196Gln
CA10228648
NM_006941.4:c.586G>C