ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826251985
Gene: NDUFS1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000419653
RCV001138898
RCV001138899
RCV002061445
RCV003950361
ClinVar Variation:
378251
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001186913.1:p.Met218Thr
CA2070717
NM_001199984.2:c.653T>C