ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828687192
Gene: MTM1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001363836.1:p.Ala540Thr
CA10539320
NM_001376907.1:c.1618G>A