ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA113209
Gene: NDUFAF5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_077025.2:p.Leu229Pro
NM_024120.5:c.686T>C