Allele Registry

Canonical Allele Identifier: PA2827713079

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000174566

ClinVar Variation:

95454

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340122.2:p.Glu427Val	CA222991 NM_001353193.2:c.1280_1281delinsTC CA375309910 NM_001353193.2:c.1280A>T