ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580199621
Gene: TBATA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305170.1:p.Leu252Pro
CA5540691
NM_001318241.2:c.755T>C