Allele Registry

Canonical Allele Identifier: PA2827712912

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000384984

RCV000850366

RCV001861343

RCV002470848

RCV003441850

RCV004530476

ClinVar Variation:

365275

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340122.2:p.Asn233del	CA5293373 NM_001353193.2:c.697_699del