Allele Registry

Canonical Allele Identifier: PA645483247

Gene: IGHMBP2 HGNC NCBI

ClinVar RCV:

RCV000235493

RCV000677264

RCV001244709

ClinVar Variation:

245629

HGVS (amino-acid)	Matching Registered Transcripts
NP_002171.2:p.Ser539Leu	CA10584389 NM_002180.3:c.1616C>T