Allele Registry

Canonical Allele Identifier: PA658804179

Gene: MTM1 HGNC NCBI

ClinVar RCV:

RCV000594938

RCV001079479

RCV004024802

ClinVar Variation:

500885

HGVS (amino-acid)	Matching Registered Transcripts
NP_000243.1:p.Lys351Arg	CA10539196 NM_000252.3:c.1052A>G