Allele Registry

Canonical Allele Identifier: PA103360

Gene: IGHMBP2 HGNC NCBI

ClinVar RCV:

RCV000235071

RCV000235520

RCV000693255

RCV004018607

ClinVar Variation:

9112

HGVS (amino-acid)	Matching Registered Transcripts
NP_002171.2:p.Glu514Lys	CA254642 NM_002180.3:c.1540G>A