Allele Registry

Canonical Allele Identifier: PA2827713132

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000558807

RCV003459248

ClinVar Variation:

471375

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340122.2:p.Trp486Ser	CA5293687 NM_001353193.2:c.1457G>C