ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA095450
Gene: MTM1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000243.1:p.His232Arg
CA415256319
NM_000252.3:c.695A>G