Allele Registry

Canonical Allele Identifier: PA2828686568

Gene: MTM1 HGNC NCBI

ClinVar RCV:

RCV000482318

RCV001404629

ClinVar Variation:

423812

HGVS (amino-acid)	Matching Registered Transcripts
NP_001363835.1:p.Gly248Ser	CA10539155 NM_001376906.1:c.742G>A