ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645430442
Gene: SOX5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000414883
ClinVar Variation:
374147
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008871.3:p.Pro302Ser
CA16043468
NM_006940.6:c.904C>T