Canonical Allele Identifier: PA340408
Gene: TFR2 HGNC NCBI

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