ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580171020
Gene: NDUFS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001186913.1:p.Val340Ile
CA2070604
NM_001199984.2:c.1018G>A