Allele Registry

Canonical Allele Identifier: PA2827713007

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000081475

ClinVar Variation:

95450

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340122.2:p.Tyr348Cys	CA222987 NM_001353193.2:c.1043A>G