ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828686927
Gene: MTM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1319478
ClinVar RCV Id:
RCV003237481
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001363836.1:p.Leu157Pro
CA415256066
NM_001376907.1:c.470T>C