Allele Registry

Canonical Allele Identifier: PA2827717114

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000695707

RCV000712813

RCV002470918

RCV002491186

ClinVar Variation:

498220

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340129.1:p.Ala381Val	CA5293760 NM_001353200.2:c.1142C>T