ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645438224
Gene: SOX9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
423957
ClinVar RCV Id:
RCV000485037
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000337.1:p.Gln473Arg
CA16620598
NM_000346.4:c.1418A>G