ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA340408
Gene: TFR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000005711
RCV003752112
ClinVar Variation:
5380
2838210
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003218.2:p.Tyr250Ter