Allele Registry

Canonical Allele Identifier: PA2827713820

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000175324

RCV002286391

RCV003323349

RCV003764522

ClinVar Variation:

3246

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340123.1:p.Gln514His	CA116112 NM_001353194.2:c.1542G>C CA375313581 NM_001353194.2:c.1542G>T