ClinGen Allele Registry
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Canonical Allele Identifier:
PA916005011
Gene: TFR2
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001193784.1:p.Tyr79Ter
NM_001206855.3:c.[236_242del;244C>A]
NM_001206855.3:c.237del
NM_001206855.3:c.237C>A
NM_001206855.3:c.237C>G