ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825746442
Gene: TBXAS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124438.2:p.Glu507Val
CA4512067
NM_001130966.5:c.1520A>T