ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825076476
Gene: MTM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1422262
ClinVar RCV Id:
RCV001945574
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000243.1:p.Val216Ile
CA10539139
NM_000252.3:c.646G>A