Canonical Allele Identifier: PA645483275
Gene: IGHMBP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 258565
ClinVar RCV Id: RCV000250041 RCV000318937 RCV000555689 RCV001711687 RCV001173363
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002171.2:p.Val647Ile
CA6153812
NM_002180.3:c.1939G>A