ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658810049
Gene: MFN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
543189
ClinVar RCV Id:
RCV000653868
RCV000789364
RCV003482291
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055689.1:p.Ala382Pro
CA338443308
NM_014874.4:c.1144G>C