ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829781464
Gene: MFN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3125717
ClinVar RCV Id:
RCV004417037
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055689.1:p.Leu727Phe
CA338453330
NM_014874.4:c.2179C>T