ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA325010
Gene: MFN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
214653
ClinVar RCV Id:
RCV000464315
RCV000789405
RCV000767172
RCV001706178
RCV002390522
RCV004530168
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055689.1:p.Arg250Gln
CA325008
NM_014874.4:c.749G>A