Canonical Allele Identifier: PA2828686504
Gene: MTM1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001363835.1:p.Pro179Ser
CA271892
NM_001376906.1:c.535C>T