Canonical Allele Identifier: PA103493
Gene: IGHMBP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 9119
ClinVar RCV Id: RCV000009689

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002171.2:p.Phe369Leu
CA254656
NM_002180.3:c.1107C>G
CA381647460
NM_002180.3:c.1105T>C
CA381647464
NM_002180.3:c.1107C>A