Allele Registry

Canonical Allele Identifier: PA2828537382

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000174566

ClinVar Variation:

95454

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361621.1:p.Glu288Val	CA222991 NM_001374692.1:c.863_864delinsTC CA375309910 NM_001374692.1:c.863A>T