ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA109590
Gene: TFR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000005713
ClinVar Variation:
5382
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003218.2:p.Met172Lys
CA340410
NM_003227.4:c.515T>A