Allele Registry

Canonical Allele Identifier: PA2828686734

Gene: MTM1 HGNC NCBI

ClinVar RCV:

RCV000146425

ClinVar Variation:

158946

HGVS (amino-acid)	Matching Registered Transcripts
NP_001363835.1:p.Trp499Arg	CA271838 NM_001376906.1:c.1495T>C CA415260008 NM_001376906.1:c.1495T>A