ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825649560
Gene: MFN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
439899
ClinVar RCV Id:
RCV000506384
RCV000657919
RCV000789379
RCV000810445
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121132.1:p.Ile513Val
CA599152
NM_001127660.2:c.1537A>G