ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573166185
Gene: SOX9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1579690
ClinVar RCV Id:
RCV002093362
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000337.1:p.Gly390Ala
CA8739117
NM_000346.4:c.1169G>C