ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100329
Gene: TMIE
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_671729.2:p.Arg81Cys
CA252745
NM_147196.3:c.241C>T