ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828686780
Gene: MTM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
158952
ClinVar RCV Id:
RCV000146431
RCV000873997
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001363835.1:p.Ile567Val
CA172597
NM_001376906.1:c.1699A>G