ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA103148
Gene: MFN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2279
ClinVar RCV Id:
RCV000002368
RCV000857095
RCV001268502
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121132.1:p.Thr206Ile
CA115472
NM_001127660.2:c.617C>T