Canonical Allele Identifier: PA645483289
Gene: IGHMBP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 245872
ClinVar RCV Id: RCV000348006 RCV000514865 RCV001082293 RCV001173331 RCV002450728
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002171.2:p.Pro787Leu
CA6153889
NM_002180.3:c.2360C>T