Allele Registry

Canonical Allele Identifier: PA271741

Gene: MTM1 HGNC NCBI

ClinVar RCV:

RCV000146379

ClinVar Variation:

158900

HGVS (amino-acid)	Matching Registered Transcripts
NP_000243.1:p.Asp380Val	CA271739 NM_000252.3:c.1139A>T