ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA095697
Gene: MTM1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000243.1:p.Trp411Cys
NM_000252.3:c.1233G>C
NM_000252.3:c.1233G>T