ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826018007
Gene: NDUFV1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
496918
ClinVar RCV Id:
RCV000592779
RCV001267712
RCV001783094
RCV001731801
RCV004530649
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159574.1:p.Arg377His
CA6143414
NM_001166102.2:c.1130G>A