ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA121732
Gene: TBXAS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159725.1:p.Leu83Pro
CA121728
NM_001166253.1:c.248T>C