Allele Registry

Canonical Allele Identifier: PA2829694963

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000192982

RCV000443667

RCV000515174

RCV001085429

RCV001166758

RCV001252355

RCV001332898

ClinVar Variation:

95459

HGVS (amino-acid)	Matching Registered Transcripts
NP_009102.4:p.Arg522Lys	CA206170 NM_007171.4:c.1565G>A