ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828686941
Gene: MTM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2010714
ClinVar RCV Id:
RCV002834198
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001363836.1:p.Asp173Val
CA415256167
NM_001376907.1:c.518A>T