ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139718107
Gene: SOX5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008871.3:p.Ile206Val
CA384320849
NM_006940.6:c.616A>G