Allele Registry

Canonical Allele Identifier: PA2828538438

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000558807

RCV003459248

ClinVar Variation:

471375

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361624.1:p.Trp334Ser	CA5293687 NM_001374695.1:c.1001G>C