ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826251878
Gene: NDUFS1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000348996
RCV000397471
RCV001728094
RCV001861145
RCV002252098
ClinVar Variation:
333781
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001186912.1:p.Val449Ile
CA2070426
NM_001199983.2:c.1345G>A