ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499241999
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_001186913.1:p.Arg290Cys
CA2070650
NM_001199984.2:c.868C>T