Canonical Allele Identifier: PA658675251
Gene: IGHMBP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 447574
ClinVar RCV Id: RCV000517070 RCV000766761 RCV001088877 RCV002404328 RCV001112397
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002171.2:p.Pro557Ala
CA6153736
NM_002180.3:c.1669C>G