Allele Registry

Canonical Allele Identifier: PA2828687184

Gene: MTM1 HGNC NCBI

ClinVar RCV:

RCV000146431

RCV000873997

ClinVar Variation:

158952

HGVS (amino-acid)	Matching Registered Transcripts
NP_001363836.1:p.Ile531Val	CA172597 NM_001376907.1:c.1591A>G