Allele Registry

Canonical Allele Identifier: PA2828687075

Gene: MTM1 HGNC NCBI

ClinVar RCV:

RCV000636898

RCV002529856

ClinVar Variation:

530855

HGVS (amino-acid)	Matching Registered Transcripts
NP_001363836.1:p.Glu367Lys	CA10539219 NM_001376907.1:c.1099G>A