Allele Registry

Canonical Allele Identifier: PA2828537374

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000003397

ClinVar Variation:

3241

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361621.1:p.Leu282del	CA278045 NM_001374692.1:c.843_845del