Allele Registry

Canonical Allele Identifier: PA2825445675

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000203138

RCV000724979

RCV001079894

ClinVar Variation:

218515

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070833.1:p.Val435Ile	CA249339 NM_001077365.2:c.1303G>A