ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA325075
Gene: NDUFAF6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
214212
ClinVar RCV Id:
RCV000200495
RCV000412555
RCV001004883
RCV002517199
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689629.2:p.Ile124Thr
CA325074
NM_152416.4:c.371T>C