Allele Registry

Canonical Allele Identifier: PA2828686514

Gene: MTM1 HGNC NCBI

ClinVar RCV:

RCV000146461

RCV003226903

ClinVar Variation:

158982

HGVS (amino-acid)	Matching Registered Transcripts
NP_001363835.1:p.Thr186Ile	CA271900 NM_001376906.1:c.557C>T