ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828686514
Gene: MTM1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001363835.1:p.Thr186Ile
CA271900
NM_001376906.1:c.557C>T