Allele Registry

Canonical Allele Identifier: PA2827713393

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000591710

RCV000819538

RCV002532650

RCV003459474

ClinVar Variation:

502200

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340123.1:p.Pro12Leu	CA5293180 NM_001353194.2:c.35C>T