Allele Registry

Canonical Allele Identifier: PA2828686860

Gene: MTM1 HGNC NCBI

ClinVar RCV:

RCV000146434

ClinVar Variation:

158955

HGVS (amino-acid)	Matching Registered Transcripts
NP_001363836.1:p.Leu70Phe	CA271853 NM_001376907.1:c.208C>T