Allele Registry

Canonical Allele Identifier: PA2825815492

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000338793

RCV000376051

RCV000530614

RCV004535339

ClinVar Variation:

285055

HGVS (amino-acid)	Matching Registered Transcripts
NP_001129585.1:p.Gly376Arg	CA5293544 NM_001136113.2:c.1126G>A CA375309062 NM_001136113.2:c.1126G>C