Allele Registry

Canonical Allele Identifier: PA2827716422

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000081475

ClinVar Variation:

95450

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340128.2:p.Tyr231Cys	CA222987 NM_001353199.2:c.692A>G