ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826481482
Gene: SOX5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001248343.1:p.Asn642_Ter643insTrp
CA384318464
NM_001261414.3:c.1929A>G