ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580111973
Gene: SOX9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2081422
ClinVar RCV Id:
RCV002979712
RCV002994276
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000337.1:p.Pro367Ala
CA8739096
NM_000346.4:c.1099C>G