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
ENSP00000503696.1:p.His540Gln	CA375313607 ENST00000678303.1:c.1620C>A CA375313608 ENST00000678303.1:c.1620C>G