ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825649808
Gene: MFN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
420586
ClinVar RCV Id:
RCV000486011
RCV000698484
RCV001027466
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121132.1:p.Glu744Lys
CA16616967
NM_001127660.2:c.2230G>A