ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828686555
Gene: MTM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
547099
ClinVar RCV Id:
RCV000659181
RCV001419343
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001363835.1:p.Glu234Gln
CA10539150
NM_001376906.1:c.700G>C