Allele Registry

Canonical Allele Identifier: PA2828686986

Gene: MTM1 HGNC NCBI

ClinVar RCV:

RCV000146483

ClinVar Variation:

159003

HGVS (amino-acid)	Matching Registered Transcripts
NP_001363836.1:p.Ile227Ser	CA271939 NM_001376907.1:c.680T>G