Allele Registry

Canonical Allele Identifier: PA347306

Gene: IGHMBP2 HGNC NCBI

ClinVar RCV:

RCV000192261

RCV000642641

RCV001808463

RCV003227706

ClinVar Variation:

204302

HGVS (amino-acid)	Matching Registered Transcripts
NP_002171.2:p.Pro531Thr	CA347304 NM_002180.3:c.1591C>A