Canonical Allele Identifier: PA2826481605
Gene: SOX5 HGNC NCBI
ClinVar RCV:
RCV000210408
ClinVar Variation:
224817
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001248344.1:p.Arg601Gly
CA357926
NM_001261415.3:c.1801C>G