Allele Registry

Canonical Allele Identifier: PA2825816940

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV001057103

ClinVar Variation:

852488

HGVS (amino-acid)	Matching Registered Transcripts
NP_001129586.1:p.Ser422Leu	CA5293763 NM_001136114.2:c.1265C>T