Allele Registry

Canonical Allele Identifier: PA2827716494

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000174566

ClinVar Variation:

95454

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340128.2:p.Glu310Val	CA222991 NM_001353199.2:c.929_930delinsTC CA375309910 NM_001353199.2:c.929A>T