Allele Registry

Canonical Allele Identifier: PA2827715137

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000081491

ClinVar Variation:

95465

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340126.2:p.Arg97Thr	CA223001 NM_001353197.2:c.290G>C