ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3072128013
Gene: TBXT
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003172.1:p.Gly177Val
CA366392575
NM_003181.3:c.530G>T