Allele Registry

Canonical Allele Identifier: PA2827713658

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000174566

ClinVar Variation:

95454

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340123.1:p.Glu351Val	CA222991 NM_001353194.2:c.1052_1053delinsTC CA375309910 NM_001353194.2:c.1052A>T