Allele Registry

Canonical Allele Identifier: PA2828686521

Gene: MTM1 HGNC NCBI

ClinVar RCV:

RCV000146463

RCV003329244

ClinVar Variation:

158984

HGVS (amino-acid)	Matching Registered Transcripts
NP_001363835.1:p.Tyr192Cys	CA271902 NM_001376906.1:c.575A>G