Allele Registry

Canonical Allele Identifier: PA2828686736

Gene: MTM1 HGNC NCBI

ClinVar RCV:

RCV000502602

RCV000809205

ClinVar Variation:

435904

HGVS (amino-acid)	Matching Registered Transcripts
NP_001363835.1:p.Ile502Lys	CA415260061 NM_001376906.1:c.1505T>A