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: PA2827645470

Gene: NDUFAF5 HGNC NCBI

Linked Data

ClinVar Variation Id: 570

ClinVar RCV Id: RCV000000600 RCV001376922 RCV001831498

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001339336.1:p.Leu42Pro	CA114355 NM_001352407.1:c.125T>C