ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829567386
Gene: NDUFS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1032963
ClinVar RCV Id:
RCV001335223
RCV002546721
RCV003325564
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004997.4:p.Arg276Cys
CA2070650
NM_005006.6:c.826C>T