ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA109578
Gene: TFR2
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_003218.2:p.Gln690Pro
NM_003227.4:c.2069A>C