Allele Registry

Canonical Allele Identifier: PA2827714813

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000558807

RCV003459248

ClinVar Variation:

471375

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340125.1:p.Trp434Ser	CA5293687 NM_001353196.2:c.1301G>C