ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916003756
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_001186913.1:p.Val548Met
CA319780
NM_001199984.2:c.1642G>A