Allele Registry

Canonical Allele Identifier: PA295436

Gene: POMT2 HGNC NCBI

ClinVar RCV:

RCV000594145

RCV000699248

RCV001004950

RCV001731484

RCV002498687

RCV003474801

ClinVar Variation:

162597

HGVS (amino-acid)	Matching Registered Transcripts
NP_037514.2:p.Arg421Trp	CA295434 NM_013382.7:c.1261C>T