Allele Registry

Canonical Allele Identifier: PA271822

Gene: MTM1 HGNC NCBI

ClinVar RCV:

RCV000146416

ClinVar Variation:

158937

HGVS (amino-acid)	Matching Registered Transcripts
NP_000243.1:p.Phe478Ser	CA271820 NM_000252.3:c.1433T>C