ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580340623
Gene: NDUFV1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2287933
ClinVar RCV Id:
RCV002832127
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009034.2:p.Gln344Leu
CA6143366
NM_007103.3:c.1031A>T