Allele Registry

Canonical Allele Identifier: PA2573073971

Gene: MTM1 HGNC NCBI

ClinVar RCV:

RCV000011804

RCV003441713

ClinVar Variation:

11055

HGVS (amino-acid)	Matching Registered Transcripts
NP_001363837.1:p.Arg69Cys	CA255665 NM_001376908.1:c.205C>T