Allele Registry

Canonical Allele Identifier: PA2573074033

Gene: MTM1 HGNC NCBI

ClinVar RCV:

RCV000636898

RCV002529856

ClinVar Variation:

530855

HGVS (amino-acid)	Matching Registered Transcripts
NP_001363837.1:p.Glu404Lys	CA10539219 NM_001376908.1:c.1210G>A