ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580171104
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_001186913.1:p.Ala601Pro
CA2070353
NM_001199984.2:c.1801G>C