Allele Registry

Canonical Allele Identifier: PA2828536433

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000174566

ClinVar Variation:

95454

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361619.1:p.Glu405Val	CA222991 NM_001374690.1:c.1214_1215delinsTC CA375309910 NM_001374690.1:c.1214A>T