Allele Registry

This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.

Canonical Allele Identifier: PA2825816360

Gene: POMT1 HGNC NCBI

ClinVar RCV:

RCV000384984

RCV000850366

RCV001861343

RCV002470848

RCV003441850

RCV004530476

ClinVar Variation:

365275

HGVS (amino-acid)	Matching Registered Transcripts
NP_001129586.1:p.Asn116del	CA5293373 NM_001136114.2:c.346_348del