Allele Registry

Canonical Allele Identifier: PA271932

Gene: MTM1 HGNC NCBI

ClinVar Allele:

170010

ClinVar RCV:

RCV000146480

ClinVar Variation:

159000

HGVS (amino-acid)	Matching Registered Transcripts
NP_000243.1:p.Gly248Val	CA271930 NM_000252.3:c.743G>T