ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139718203
Gene: SOX10
HGNC
NCBI
Linked Data
ClinVar Variation Id:
995933
ClinVar RCV Id:
RCV001290171
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008872.1:p.Leu129Pro
CA411500214
NM_006941.4:c.386T>C