ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913196411
Gene: SOX9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
618379
ClinVar RCV Id:
RCV001811465
RCV002279516
RCV002067190
RCV003928257
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000337.1:p.Pro345Ser
CA8739079
NM_000346.4:c.1033C>T