Allele Registry

Canonical Allele Identifier: PA645483228

Gene: IGHMBP2 HGNC NCBI

ClinVar RCV:

RCV000407593

RCV000726894

RCV001079219

RCV001173579

RCV002338693

RCV004547564

ClinVar Variation:

234315

HGVS (amino-acid)	Matching Registered Transcripts
NP_002171.2:p.Ala398Val	CA6153539 NM_002180.3:c.1193C>T