ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826251906
Gene: NDUFS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2371995
ClinVar RCV Id:
RCV003001393
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001186912.1:p.Ala530Pro
CA2070353
NM_001199983.2:c.1588G>C