ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827349946
Gene: SOX5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317714.1:p.Asn728_Ter729insTrp
CA384318464
NM_001330785.2:c.2187A>G