Allele Registry

Canonical Allele Identifier: PA2827714692

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000081475

ClinVar Variation:

95450

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340125.1:p.Tyr296Cys	CA222987 NM_001353196.2:c.887A>G