Allele Registry

Canonical Allele Identifier: PA1139722775

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000558807

RCV003459248

ClinVar Variation:

471375

HGVS (amino-acid)	Matching Registered Transcripts
NP_009102.4:p.Trp486Ser	CA5293687 NM_007171.4:c.1457G>C