Allele Registry

Canonical Allele Identifier: PA095263

Gene: MTM1 HGNC NCBI

ClinVar Allele:

170043

ClinVar RCV:

RCV000146393

RCV000428593

RCV001257576

ClinVar Variation:

158914

HGVS (amino-acid)	Matching Registered Transcripts
NP_000243.1:p.Arg421Gln	CA271769 NM_000252.3:c.1262G>A