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
XP_005272219.1:p.His348_Ter349insTrpAsnLysSerValAlaLysAsnThrArgAlaGlyValGlyMetArgLeuLysGlyLeuGlyGlnCysThr
CA375315539
XM_005272162.3:c.1046A>G