Allele Registry

Canonical Allele Identifier: PA2827716295

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV003069110

ClinVar Variation:

2154108

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340128.2:p.Trp69Cys	CA5293322 NM_001353199.2:c.207G>T CA375307163 NM_001353199.2:c.207G>C