Allele Registry

Canonical Allele Identifier: PA2828536330

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000712829

RCV000764805

RCV001041917

RCV003454804

RCV004021212

ClinVar Variation:

286908

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361619.1:p.Ser283Arg	CA5293451 NM_001374690.1:c.847A>C CA375307957 NM_001374690.1:c.849C>A CA375307958 NM_001374690.1:c.849C>G