Allele Registry

Canonical Allele Identifier: PA2828687080

Gene: MTM1 HGNC NCBI

ClinVar RCV:

RCV000146385

ClinVar Variation:

158906

HGVS (amino-acid)	Matching Registered Transcripts
NP_001363836.1:p.Trp374Cys	CA271755 NM_001376907.1:c.1122G>T CA415258881 NM_001376907.1:c.1122G>C