Allele Registry

Canonical Allele Identifier: PA2827712804

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000003394

RCV001171882

ClinVar Variation:

3238

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340122.2:p.Gly76Arg	CA278040 NM_001353193.2:c.226G>A CA375305761 NM_001353193.2:c.226G>C