ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830286939
Gene: TBATA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689923.3:p.Leu251Pro
CA5540691
NM_152710.4:c.752T>C