ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573074000
Gene: MTM1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001363837.1:p.Arg224Ter
NM_001376908.1:c.670C>T