ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580238862
Gene: MTM1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001363837.1:p.Met249Val
CA10539157
NM_001376908.1:c.745A>G