Canonical Allele Identifier: PA347306
Gene: IGHMBP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 204302
ClinVar RCV Id: RCV000192261 RCV000642641 RCV001808463 RCV003227706
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002171.2:p.Pro531Thr
CA347304
NM_002180.3:c.1591C>A