ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825649114
Gene: MFN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217163
ClinVar RCV Id:
RCV000201006
RCV000237022
RCV001386993
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121132.1:p.Leu146Phe
CA279064
NM_001127660.2:c.436C>T