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: PA645494770

Gene: NDUFB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 252575

ClinVar RCV Id: RCV000239318 RCV000504444 RCV000624796 RCV000735413

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_002482.1:p.Trp22Arg	CA2052282 NM_002491.3:c.64T>C CA350268543 NM_002491.3:c.64T>A