ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA121737
Gene: TBXAS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124438.1:p.Gly482Trp
CA121734
NM_001130966.2:c.1444G>T