ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645422643
Gene: TUFM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003312.3:p.Leu147His
CA16042229
NM_003321.5:c.440T>A