ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828165238
Gene: TUFM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
372182
ClinVar RCV Id:
RCV000412576
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001352289.1:p.Leu147His
CA16042229
NM_001365360.2:c.440T>A