ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828686918
Gene: MTM1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000146461
RCV003226903
ClinVar Variation:
158982
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001363836.1:p.Thr149Ile
CA271900
NM_001376907.1:c.446C>T