Canonical Allele Identifier: PA2573220264
Gene: IGHMBP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1416926
ClinVar RCV Id: RCV001935961
ClinVar Variation Id: 1428111
ClinVar RCV Id: RCV001964788

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002171.2:p.Gln111His
CA381643153
NM_002180.3:c.333G>C
CA381643154
NM_002180.3:c.333G>T