Allele Registry

Canonical Allele Identifier: PA2827714763

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000174566

ClinVar Variation:

95454

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340125.1:p.Glu375Val	CA222991 NM_001353196.2:c.1124_1125delinsTC CA375309910 NM_001353196.2:c.1124A>T