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: PA2580271957

Gene: IGHMBP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1919380

ClinVar RCV Id: RCV002594791

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_002171.2:p.Arg757Gln