Allele Registry

Canonical Allele Identifier: PA2827713795

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV001057103

ClinVar Variation:

852488

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340123.1:p.Ser485Leu	CA5293763 NM_001353194.2:c.1454C>T