ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825649255
Gene: MFN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
543219
ClinVar RCV Id:
RCV000653915
RCV000789065
RCV001091327
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121132.1:p.Arg250Trp
CA598916
NM_001127660.2:c.748C>T