ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3063929564
Gene: MFN2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055689.1:p.Arg250Leu
CA338439111
NM_014874.4:c.749G>T