ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828686853
Gene: MTM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
944076
ClinVar RCV Id:
RCV001214396
RCV003490125
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001363836.1:p.Ile59Val
CA10539055
NM_001376907.1:c.175A>G