Allele Registry

Canonical Allele Identifier: PA645483298

Gene: IGHMBP2 HGNC NCBI

ClinVar RCV:

RCV000248917

RCV000873173

RCV001112494

RCV001172575

RCV001705362

RCV002429187

ClinVar Variation:

258572

HGVS (amino-acid)	Matching Registered Transcripts
NP_002171.2:p.Ala849Thr	CA6153935 NM_002180.3:c.2545G>A