Allele Registry

Canonical Allele Identifier: PA271803

Gene: MTM1 HGNC NCBI

ClinVar RCV:

RCV000146408

ClinVar Variation:

158929

HGVS (amino-acid)	Matching Registered Transcripts
NP_000243.1:p.Leu463Ser	CA271801 NM_000252.3:c.1388T>C