Allele Registry

Canonical Allele Identifier: PA220543

Gene: MTM1 HGNC NCBI

ClinVar RCV:

RCV000078436

RCV000146479

ClinVar Variation:

92677

HGVS (amino-acid)	Matching Registered Transcripts
NP_000243.1:p.Trp230Arg	CA220541 NM_000252.3:c.688T>C CA415256300 NM_000252.3:c.688T>A