Allele Registry

Canonical Allele Identifier: PA2828538416

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000648158

RCV000733057

RCV004544878

ClinVar Variation:

538722

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361624.1:p.Arg314Cys	CA5293658 NM_001374695.1:c.940C>T