ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573074004
Gene: MTM1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001363837.1:p.Trp230Arg
NM_001376908.1:c.688T>A
NM_001376908.1:c.688T>C