This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: POMT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340126.1:p.His693_Ter694insGluAsnLysSerValAlaLysAsnThrArgAlaGlyValGlyMetArgLeuLysGlyLeuGlyGlnCysThr
CA375315536
NM_001353197.1:c.2080T>G