Allele Registry

Canonical Allele Identifier: PA2828687140

Gene: MTM1 HGNC NCBI

ClinVar RCV:

RCV000502602

RCV000809205

ClinVar Variation:

435904

HGVS (amino-acid)	Matching Registered Transcripts
NP_001363836.1:p.Ile465Lys	CA415260061 NM_001376907.1:c.1394T>A