Allele Registry

Canonical Allele Identifier: PA2828686658

Gene: MTM1 HGNC NCBI

ClinVar RCV:

RCV000146381

ClinVar Variation:

158902

HGVS (amino-acid)	Matching Registered Transcripts
NP_001363835.1:p.Asp394His	CA271744 NM_001376906.1:c.1180G>C