ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580111945
Gene: SOX9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2024289
ClinVar RCV Id:
RCV002863207
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000337.1:p.Pro266Leu
CA400867062
NM_000346.4:c.797C>T