Allele Registry

Canonical Allele Identifier: PA2828536734

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000384984

RCV000850366

RCV001861343

RCV002470848

RCV003441850

RCV004530476

ClinVar Variation:

365275

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361620.1:p.Asn116del	CA5293373 NM_001374691.1:c.346_348del