ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA319781
Gene: NDUFS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
214774
ClinVar RCV Id:
RCV000195446
RCV001138793
RCV001138792
RCV002515413
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004997.4:p.Val534Met
CA319780
NM_005006.6:c.1600G>A