Allele Registry

Canonical Allele Identifier: PA2827716118

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000246533

RCV000332912

RCV000687622

RCV000725940

RCV002518638

ClinVar Variation:

260143

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340127.2:p.Val544Ala	CA5293806 NM_001353198.2:c.1631T>C