Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA658675284

Gene: IGHMBP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 466590

ClinVar RCV Id: RCV001173576 RCV001837952 RCV002431624 RCV000559739

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_002171.2:p.Gly800Ser	CA6153905 NM_002180.3:c.2398G>A