ClinGen Allele Registry
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Canonical Allele Identifier:
PA340408
Gene: TFR2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_003218.2:p.Tyr250Ter
NM_003227.4:c.[749_755del;757C>A]
NM_003227.4:c.750del
NM_003227.4:c.750C>A
NM_003227.4:c.750C>G