ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830371548
Gene: SOX5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_821078.1:p.Pro173Leu
CA384319903
NM_178010.4:c.518C>T