Allele Registry

Canonical Allele Identifier: PA2827714891

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000695707

RCV000712813

RCV002470918

RCV002491186

ClinVar Variation:

498220

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340125.1:p.Ala503Val	CA5293760 NM_001353196.2:c.1508C>T