Canonical Allele Identifier: PA658693489
Gene: SOX9 HGNC NCBI
ClinVar RCV:
RCV000578438
ClinVar Variation:
488603
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000337.1:p.Tyr172Cys
CA400866467
NM_000346.4:c.515A>G