Allele Registry

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

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340128.2:p.Ser388Arg	CA375312018 NM_001353199.2:c.1162A>C CA375312025 NM_001353199.2:c.1164C>G CA375312026 NM_001353199.2:c.1164C>A