ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3073466386
Gene: TBXAS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001052.3:p.Leu82Arg
CA369583287
NM_001061.7:c.245T>G