ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573302576
Gene: MTFMT
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_640335.2:p.Gln355Glu
CA392844779
NM_139242.4:c.1063C>G