ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580174251
Gene: TFR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2049623
ClinVar RCV Id:
RCV002937187
RCV003375715
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001193784.1:p.Leu4Val
CA4386803
NM_001206855.3:c.10C>G