ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA121740
Gene: TBXAS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159726.1:p.Arg345Gln
CA121739
NM_001166254.4:c.1034G>A