Allele Registry

Canonical Allele Identifier: PA2825815811

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000695707

RCV000712813

RCV002470918

RCV002491186

ClinVar Variation:

498220

HGVS (amino-acid)	Matching Registered Transcripts
NP_001129585.1:p.Ala533Val	CA5293760 NM_001136113.2:c.1598C>T