Canonical Allele Identifier: PA645483161
Gene: IGHMBP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 374170
ClinVar RCV Id: RCV000415346 RCV000702154 RCV000754728
ClinVar Variation Id: 575884
ClinVar RCV Id: RCV000698226 RCV001572867 RCV002406605
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002171.2:p.Gly61Arg
CA16043462
NM_002180.3:c.181G>A
CA381642415
NM_002180.3:c.181G>C