ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA322247
Gene: NDUFS8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
214838
ClinVar RCV Id:
RCV000197784
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002487.1:p.Tyr143Phe
CA322246
NM_002496.4:c.428A>T