Canonical Allele Identifier: PA645483266
Gene: IGHMBP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 245883
ClinVar RCV Id: RCV000235293 RCV000551552 RCV001112400 RCV001173562 RCV002411069
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002171.2:p.Arg615His
CA6153793
NM_002180.3:c.1844G>A