ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3073496905
Gene: TBXAS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001052.3:p.Arg412Leu
CA369517313
NM_001061.7:c.1235G>T