Allele Registry

Canonical Allele Identifier: PA2827712773

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000177268

RCV001376971

RCV002477237

RCV003155069

RCV003474682

RCV004529856

ClinVar Variation:

95456

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340122.2:p.Glu44Asp	CA222993 NM_001353193.2:c.132A>C CA375305548 NM_001353193.2:c.132A>T