Canonical Allele Identifier: PA645483233
Gene: IGHMBP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 305846
ClinVar RCV Id: RCV000330441 RCV001086737 RCV000479567 RCV001173336 RCV002392842
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002171.2:p.Asp474Glu
CA6153644
NM_002180.3:c.1422C>A
CA381649599
NM_002180.3:c.1422C>G