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_001340122.2:p.His747Gln	CA375315531 NM_001353193.2:c.2241C>G CA375315533 NM_001353193.2:c.2241C>A