Allele Registry

Canonical Allele Identifier: PA2827713071

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000003397

ClinVar Variation:

3241

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340122.2:p.Leu421del	CA278045 NM_001353193.2:c.1260_1262del