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: PA281401

Gene: NLRP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 97981

ClinVar RCV Id: RCV000084243 RCV000217940 RCV001854469

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001230062.1:p.Glu304Lys	CA281399 NM_001243133.2:c.910G>A