Allele Registry

Canonical Allele Identifier: PA2828686958

Gene: MTM1 HGNC NCBI

ClinVar RCV:

RCV000078436

RCV000146479

ClinVar Variation:

92677

HGVS (amino-acid)	Matching Registered Transcripts
NP_001363836.1:p.Trp193Arg	CA220541 NM_001376907.1:c.577T>C CA415256300 NM_001376907.1:c.577T>A