Allele Registry

Canonical Allele Identifier: PA2827713688

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000648158

RCV000733057

RCV004544878

ClinVar Variation:

538722

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340123.1:p.Arg390Cys	CA5293658 NM_001353194.2:c.1168C>T