ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA341978
Gene: TFR2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003218.2:p.Leu490Arg
CA341977
NM_003227.4:c.1469T>G