ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA239605
Gene: MFN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193898
ClinVar RCV Id:
RCV000595105
RCV002517672
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055689.1:p.Ala383Val
CA239603
NM_014874.4:c.1148C>T