ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094802
Gene: SOX9
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000002618
RCV003497831
ClinVar Variation:
2511
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000337.1:p.Lys173Glu
CA115585
NM_000346.4:c.517A>G