ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826288136
Gene: TFR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1013964
ClinVar RCV Id:
RCV001312632
RCV001835530
RCV003294255
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001193784.1:p.Ala514Val
CA4386225
NM_001206855.3:c.1541C>T