Allele Registry

Canonical Allele Identifier: PA271828

Gene: MTM1 HGNC NCBI

ClinVar RCV:

RCV000146418

ClinVar Variation:

158939

HGVS (amino-acid)	Matching Registered Transcripts
NP_000243.1:p.Val49Ile	CA271826 NM_000252.3:c.145G>A