Allele Registry

Canonical Allele Identifier: PA2828686980

Gene: MTM1 HGNC NCBI

ClinVar Allele:

170012

ClinVar RCV:

RCV000146482

ClinVar Variation:

159002

HGVS (amino-acid)	Matching Registered Transcripts
NP_001363836.1:p.Tyr223Ser	CA271936 NM_001376907.1:c.668A>C