Allele Registry

Canonical Allele Identifier: PA2827716986

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000174566

ClinVar Variation:

95454

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340129.1:p.Glu253Val	CA222991 NM_001353200.2:c.758_759delinsTC CA375309910 NM_001353200.2:c.758A>T