ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580111831
Gene: SOX9
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000337.1:p.Pro6Ser
CA293780901
NM_000346.4:c.16C>T