ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA322250
Gene: MFN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
214648
ClinVar RCV Id:
RCV000197786
RCV001101761
RCV001087905
RCV001335680
RCV002415848
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055689.1:p.Arg663Cys
CA322248
NM_014874.4:c.1987C>T