ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741934484
Gene: SOX5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008871.3:p.Pro559Leu
CA384319903
NM_006940.6:c.1676C>T