Allele Registry

Canonical Allele Identifier: PA2828536011

Gene: POMT1 HGNC NCBI

ClinVar Variation Id: 373779

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361618.1:p.Arg596Leu	CA5293830 NM_001374689.1:c.1787G>T