Allele Registry

Canonical Allele Identifier: PA2827713053

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000338793

RCV000376051

RCV000530614

RCV004535339

ClinVar Variation:

285055

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340122.2:p.Gly398Arg	CA5293544 NM_001353193.2:c.1192G>A CA375309062 NM_001353193.2:c.1192G>C