ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA103168
Gene: MFN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2273
ClinVar RCV Id:
RCV000002361
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121132.1:p.Val69Phe
CA252157
NM_001127660.2:c.205G>T