ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573184196
Gene: TBXAS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159725.2:p.Tyr573Cys
CA4512105
NM_001166253.4:c.1718A>G