Allele Registry

Canonical Allele Identifier: PA645425051

Gene: MTM1 HGNC NCBI

ClinVar RCV:

RCV000502602

RCV000809205

ClinVar Variation:

435904

HGVS (amino-acid)	Matching Registered Transcripts
NP_000243.1:p.Ile502Lys	CA415260061 NM_000252.3:c.1505T>A