ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827645672
Gene: NDUFAF5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2431736
ClinVar RCV Id:
RCV003142373
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339337.1:p.Thr193Ala
CA408270727
NM_001352408.1:c.577A>G