ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580386552
Gene: NDUFAF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1988919
ClinVar RCV Id:
RCV002781548
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057097.2:p.Thr72Ile
CA7491377
NM_016013.4:c.215C>T