Allele Registry

Canonical Allele Identifier: PA2825815825

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV001057103

ClinVar Variation:

852488

HGVS (amino-acid)	Matching Registered Transcripts
NP_001129585.1:p.Ser539Leu	CA5293763 NM_001136113.2:c.1616C>T