ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916003747
Gene: NDUFS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001186913.1:p.Arg433Gln
CA2070515
NM_001199984.2:c.1298G>A