Allele Registry

Canonical Allele Identifier: PA2827714793

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000648158

RCV000733057

RCV004544878

ClinVar Variation:

538722

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340125.1:p.Arg414Cys	CA5293658 NM_001353196.2:c.1240C>T