ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA252156
Gene: MFN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2272
ClinVar RCV Id:
RCV000002360
RCV000789417
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055689.1:p.Pro251Ala
CA252154
NM_014874.4:c.751C>G