Allele Registry

Canonical Allele Identifier: PA2827715260

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000712829

RCV000764805

RCV001041917

RCV003454804

RCV004021212

ClinVar Variation:

286908

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340126.2:p.Ser251Arg	CA5293451 NM_001353197.2:c.751A>C CA375307957 NM_001353197.2:c.753C>A CA375307958 NM_001353197.2:c.753C>G