Allele Registry

Canonical Allele Identifier: PA2825816976

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV002286388

RCV002512704

ClinVar Variation:

3242

HGVS (amino-acid)	Matching Registered Transcripts
NP_001129586.1:p.Trp443Cys	CA116106 NM_001136114.2:c.1329G>C CA375313220 NM_001136114.2:c.1329G>T