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: PA116665

Gene: NLRP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4163

ClinVar RCV Id: RCV000004380 RCV001510771 RCV001781175 RCV001781177 RCV003390641 RCV001781176

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001028225.1:p.Leu155His	CA018555 NM_001033053.3:c.464T>A