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: PA2828433154

Gene: NOD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 319468

ClinVar RCV Id: RCV000324406 RCV001782830 RCV002522867 RCV003392204

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357395.1:p.Ile805Val	CA10648458 NM_001370466.1:c.2413A>G