ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA129422
Gene: MFN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
30736
ClinVar RCV Id:
RCV000023714
RCV000235670
RCV000456775
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055689.1:p.Phe216Ser
CA129420
NM_014874.4:c.647T>C