Allele Registry

Canonical Allele Identifier: PA2827713235

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV002286388

RCV002512704

ClinVar Variation:

3242

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340122.2:p.Trp582Cys	CA116106 NM_001353193.2:c.1746G>C CA375313220 NM_001353193.2:c.1746G>T