ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828165253
Gene: TUFM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001352289.1:p.Glu199Gln
CA395417133
NM_001365360.2:c.595G>C