Allele Registry

Canonical Allele Identifier: PA1139723129

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV002286388

RCV002512704

ClinVar Variation:

3242

HGVS (amino-acid)	Matching Registered Transcripts
NP_009102.4:p.Trp582Cys	CA116106 NM_007171.4:c.1746G>C CA375313220 NM_007171.4:c.1746G>T