ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825649252
Gene: MFN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
202171
ClinVar RCV Id:
RCV000184017
RCV000789360
RCV001245336
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121132.1:p.Ser249Phe
CA275457
NM_001127660.2:c.746C>T