ClinGen Allele Registry
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Canonical Allele Identifier:
PA916003749
Gene: NDUFS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
138479
ClinVar RCV Id:
RCV000195297
RCV000513877
RCV000605317
RCV001143218
RCV001282631
RCV001143217
RCV003925255
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001186913.1:p.Leu445Val
CA232547
NM_001199984.2:c.1333C>G