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: PA2580208395

Gene: NDUFAF5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1804485

ClinVar RCV Id: RCV002469786

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339332.1:p.Arg41Trp	CA408270760 NM_001352403.2:c.121C>T