Allele Registry

Canonical Allele Identifier: PA2828538387

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000174566

ClinVar Variation:

95454

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361624.1:p.Glu275Val	CA222991 NM_001374695.1:c.824_825delinsTC CA375309910 NM_001374695.1:c.824A>T