Allele Registry

Canonical Allele Identifier: PA1139743494

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000492919

RCV000648161

ClinVar Variation:

429561

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361618.1:p.Arg325Lys	CA5293483 NM_001374689.1:c.974G>A