Allele Registry

Canonical Allele Identifier: PA2827712792

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV002286389

RCV002512705

RCV003460408

ClinVar Variation:

3244

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340122.2:p.Gly65Arg	CA116108 NM_001353193.2:c.193G>A CA375305697 NM_001353193.2:c.193G>C