ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828686429
Gene: MTM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1400247
ClinVar RCV Id:
RCV001896628
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001363835.1:p.Arg69His
CA10539057
NM_001376906.1:c.206G>A