ClinGen Allele Registry
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Canonical Allele Identifier:
PA645491358
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_004997.4:p.Val506Ile
CA2070426
NM_005006.6:c.1516G>A