ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA103071
Gene: MFN2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001121132.1:p.Arg94Trp
NM_001127660.2:c.280C>T