ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645404444
Gene: TBXAS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159725.1:p.Glu554Val
CA4512067
NM_001166253.1:c.1661A>T