Allele Registry

Canonical Allele Identifier: PA2827716523

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000648158

RCV000733057

RCV004544878

ClinVar Variation:

538722

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340128.2:p.Arg349Cys	CA5293658 NM_001353199.2:c.1045C>T