ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830304137
Gene: SOX5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_694534.1:p.Gly108Ser
CA384322145
NM_152989.3:c.322G>A